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- [11] Refining ClinGen loss of function variant recommendations for the phenylalanine hydroxylase (PAH) gene: the PAH variant curation expert panel's experienceMOLECULAR GENETICS AND METABOLISM, 2021, 132 : S231 - S231Groopman, Emily论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, New York, NY USA Columbia Univ, Med Ctr, New York, NY USAWeaver, Meredith论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Columbia Univ, Med Ctr, New York, NY USAZastrow, Diane论文数: 0 引用数: 0 h-index: 0机构: Palo Alto Med Fdn, Palo Alto, CA USA Stanford Univ, Stanford, CA 94305 USA Columbia Univ, Med Ctr, New York, NY USAEnns, Gregory论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Columbia Univ, Med Ctr, New York, NY USAFeigenbaum, Annette论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USA Columbia Univ, Med Ctr, New York, NY USALichter-Konecki, Uta论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Childrens Hosp Pittsburgh UPMC, Pittsburgh, PA USA Columbia Univ, Med Ctr, New York, NY USALyon, Elaine论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Columbia Univ, Med Ctr, New York, NY USAPasquali, Marzia论文数: 0 引用数: 0 h-index: 0机构: ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USA Columbia Univ, Med Ctr, New York, NY USACaldovic, Ljuba论文数: 0 引用数: 0 h-index: 0机构: Natl Childrens Hosp, Med Genet Res Ctr, Washington, DC USA Columbia Univ, Med Ctr, New York, NY USARoss, Justyne论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC 27515 USA Columbia Univ, Med Ctr, New York, NY USACraigen, William论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Columbia Univ, Med Ctr, New York, NY USA
- [12] THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASEMOLECULAR GENETICS AND METABOLISM, 2023, 138 (03) : 71 - 71Mao, Rong论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USAGroopman, Emily论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA USA Univ Utah, Salt Lake City, UT USAFernandez, Raquel论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ Utah, Salt Lake City, UT USAMohan, Shruthi论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USAStafford, Amber论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USABaudet, Heather论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Chapel Hill, NC USA Univ Utah, Salt Lake City, UT USAWeaver, Meredith论文数: 0 引用数: 0 h-index: 0机构: Amer Coll Med Genet & Genom, Bethesda, MD USA Univ Utah, Salt Lake City, UT USAClarke, Lorne论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ Utah, Salt Lake City, UT USAHung, Christina论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Univ Utah, Salt Lake City, UT USABali, Deeksha论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Durham, NC USA Univ Utah, Salt Lake City, UT USAPinto e Vairo, Filippo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Univ Utah, Salt Lake City, UT USARacacho, Lemuel论文数: 0 引用数: 0 h-index: 0机构: Alberta Precis Labs, Calgary, AB, Canada Univ Utah, Salt Lake City, UT USAYuzyuk, Tatiana论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USA ARUP Labs, Salt Lake City, UT USA Univ Utah, Salt Lake City, UT USACraigen, William论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX USA Univ Utah, Salt Lake City, UT USAGoldstein, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Chapel Hill, NC USA Univ Utah, Salt Lake City, UT USA
- [13] The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationGENETICS IN MEDICINE, 2022, 24 (02) : 293 - 306Chora, Joana R.论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalIacocca, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTichy, Lukas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal论文数: 引用数: h-index:机构:Kurtz, C. Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27515 USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalZimmermann, Heather论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeon, Annette论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWilliams, Maggie论文数: 0 引用数: 0 h-index: 0机构: North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHumphries, Steve E.论文数: 0 引用数: 0 h-index: 0机构: UCL, Ctr Cardiovasc Genet, Inst Cardiovasc Sci, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHooper, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Royal Perth Hosp, PathWest Lab Med WA, Dept Clin Biochem, Perth, WA, Australia Univ Western Australia, Fiona Stanley Hosp Network, Perth, WA, Australia Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalTrinder, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBrunham, Liam R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Fac Med, Dept Med, Vancouver, BC, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalPereira, Alexandre Costa论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJannes, Cinthia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Fac Med, Inst Hearth InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChen, Margaret论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalChonis, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKim, Serra论文数: 0 引用数: 0 h-index: 0机构: Color Hlth Inc, Burlingame, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalJohnston, Tami论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSoucek, Premysl论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKramarek, Michal论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalLeigh, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Genom England, London, England Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalCarrie, Alain论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Obes & Dyslipidemia Genet Unit, Mol & Chromosomal Genet Ctr, Univ Hosp Pitie Salpetriere Charles Foix, Paris, France Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalSijbrands, Eric J.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Acad Med Ctr, Rotterdam, Netherlands Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalHegele, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Robarts Res Inst, Schulich Sch Med & Dent, London, ON, Canada Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalFreiberger, Tomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Surg & Transplantat, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalKnowles, Joshua W.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Prevent Res Ctr, Div Cardiovasc Med,Stanford Cardiovasc Inst, Stanford, CA 94305 USA Stanford Univ, Sch Med, Diabet Res Ctr, Stanford, CA 94305 USA FH Fdn, Pasadena, CA USA Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal Univ Lisbon, Fac Sci, Dept Chem & Biochem, BioISI BioSyst & Integrat Sci Inst, Lisbon, Portugal Nacl Inst Hlth Dr Ricardo Jorge, Dept Hlth Promot & Prevent Noncommunicable Dis, Ave Padre Cruz, P-1649016 Lisbon, Portugal
- [14] LDLR VARIANT CLASSIFICATION WITH CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANEL SPECIFICATIONSATHEROSCLEROSIS, 2022, 355 : E81 - E81Chora, J. R.论文数: 0 引用数: 0 h-index: 0机构: Biosyst & Integrat Sci Inst, Btr, Lisbon, Portugal Inst Nacl Saude Dr Ricardo Jorge, Dept Promocao Saude E Doencas Nao Transmissiveis, Lisbon, Portugal Biosyst & Integrat Sci Inst, Btr, Lisbon, PortugalBourbon, M.论文数: 0 引用数: 0 h-index: 0机构: Biosyst & Integrat Sci Inst, Btr, Lisbon, Portugal Inst Nacl Saude Dr Ricardo Jorge, Dept Promocao Saude E Doencas Nao Transmissiveis, Lisbon, Portugal Biosyst & Integrat Sci Inst, Btr, Lisbon, Portugal
- [15] ClinGen HHT Variant Curation Expert Panel's modified variant interpretation and classification guidelinesEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 742 - 742Demille, Desiree论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Thompson, Bryony论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Melbourne, Vic, Australia ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAMcDonald, Jamie论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pathol, Salt, Jordan ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABernabeu, Carmelo论文数: 0 引用数: 0 h-index: 0机构: CSIC, Ctr Invest Biol Margarita Salas, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USADupuis-Girod, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGanguly, Arupa论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Genet, Philadelphia, PA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGiraud, Sophie论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAIchikawa, Shoji论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, San Francisco, CA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJessen, Jaime论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJovine, Luca论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Biosci & Nutr, Huddinge, Sweden ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAKasthuri, Raj论文数: 0 引用数: 0 h-index: 0机构: UNC Sch Med, Dept Med, Chapel Hill, NC USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOlivieri, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAvan Amstel, Johannes Kristian Ploos论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Utrecht, Netherlands ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USARacher, Hilary论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAShovlin, Claire论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, London, England ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABayrak-Toydemir, Pinar论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Dept Pathol, Salt, Jordan ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA
- [16] ClinGen HHT Variant Curation Expert Panel's Modified Variant Interpretation and Classification GuidelinesANGIOGENESIS, 2023, 26 (01) : S18 - S18DeMille, D.论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA论文数: 引用数: h-index:机构:Bernabeu, C.论文数: 0 引用数: 0 h-index: 0机构: CSIC, Ctr Invest Biol Margarita Sala, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USADupuis-Girod, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France Grp Hosp Est, Genet Dept, Bron, France Grp Hosp Est, HHT Reference Ctr, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGanguly, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Genet, Genet Diagnost Lab, Philadelphia, PA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAGiraud, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Bron, France Grp Hosp Est, Genet Dept, Bron, France Grp Hosp Est, HHT Reference Ctr, Bron, France ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAIchikawa, S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJessen, J.论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAJovine, L.论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Bio Sci & Nutr, Blickagangen 16, SE-14183 Huddinge, Sweden ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAKasthuri, R. S.论文数: 0 引用数: 0 h-index: 0机构: UNC Sch Med, Div Hematol, Dept Med, Chapel Hill, NC USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOlivieri, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Gen Biol & Med Genet Unit, Dept Mol Med, Pavia, Italy ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAvan Amstel, Ploos H. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Div Lab Pharm & Biomed Genet, Dept Genet, Utrecht, Netherlands ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USARacher, H.论文数: 0 引用数: 0 h-index: 0机构: Impact Genet, Brampton, ON, Canada ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAShovlin, C. L.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Natl Heart & Lung Inst, London, England Imperial Coll Healthcare NHS Trust, Med, London, England ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USABayrak-Toydemir, P.论文数: 0 引用数: 0 h-index: 0机构: ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Univ Utah, Dept Pathol, Salt Lake City, UT USA ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA
- [17] FIRST YEAR OF LDLR VARIANT CLASSIFICATION FROM THE CLINGEN FAMILIAL HYPERCHOLESTEROLEMIA VARIANT CURATION EXPERT PANELMEDICINE, 2023, 102 (13)Chora, Joana Rita论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal Univ Lisbon, BioISI Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, PortugalBourbon, Mafalda论文数: 0 引用数: 0 h-index: 0机构: Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal Univ Lisbon, BioISI Biosyst & Integrat Sci Inst, Fac Sci, Lisbon, Portugal Inst Nacl Saude Doutor Ricardo Jorge, Dept Promocao Saude Doencas Nao Transmissiveis, Unidade I&D, Grupo Invest Cardiovasc, Lisbon, Portugal
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