THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE

被引：0

作者：

Mao, Rong ^{[1
,2
]}

Groopman, Emily ^{[3
]}

Fernandez, Raquel ^{[4
]}

Mohan, Shruthi

Stafford, Amber

Baudet, Heather ^{[5
]}

Weaver, Meredith ^{[4
]}

Clarke, Lorne ^{[6
]}

Hung, Christina ^{[7
]}

Bali, Deeksha ^{[8
]}

Pinto e Vairo, Filippo ^{[9
]}

Racacho, Lemuel ^{[10
]}

Yuzyuk, Tatiana ^{[1
,2
]}

Craigen, William ^{[11
]}

Goldstein, Jennifer ^{[5
]}

机构：

[1] Univ Utah, Salt Lake City, UT USA

[2] ARUP Labs, Salt Lake City, UT USA

[3] Broad Inst MIT & Harvard, Cambridge, MA USA

[4] Amer Coll Med Genet & Genom, Bethesda, MD USA

[5] Univ North Carolina Chapel Hill, Chapel Hill, NC USA

[6] Univ British Columbia, Vancouver, BC, Canada

[7] Invitae, San Francisco, CA USA

[8] Duke Univ, Durham, NC USA

[9] Mayo Clin, Rochester, MN USA

[10] Alberta Precis Labs, Calgary, AB, Canada

[11] Baylor Coll Med, Houston, TX USA

来源：

关键词：

D O I：

10.1016/j.ymgme.2023.107454

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

080

引用

页码：71 / 71

页数：1