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Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene
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Rubio-Cabezas, O.
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2008, 9 (03)
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Rubio-Cabezas, O.
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机构:
Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain

Gonzalez, F. Diaz
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h-index: 0
机构:
Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain

Aragones, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Virgen Salud, Dept Paediat, Toledo, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain

Argente, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain
Univ Autonoma Madrid, Dept Paediat, Madrid, Spain
Inst Salud Carlos III, CIBER Fisiopatol Obesidad & Nutr CB06 03, Madrid, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain

Campos-Barros, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain Hosp Infantil Univ Nino Jesus, Serv Endocrinol, Dept Endocrinol, Madrid 28009, Spain
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Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene
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Mendonca, BB
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Leite, MV
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de Castro, M
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Kino, T
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
2002, 87 (04)
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Mendonca, BB
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Leite, MV
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

de Castro, M
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Kino, T
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Elias, LLK
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Bachega, TAS
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Arnhold, IJP
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机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Chrousos, GP
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h-index: 0
机构: Univ Sao Paulo, Fac Med, Hosp Clin, Lab Hormonios,Unidade Endocrinol Desenvolvimento, BR-05403900 Sao Paulo, Brazil

Latronico, C
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h-index: 0
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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
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Martínez-Mir, A
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Paloma, E
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机构: Univ Barcelona, Fac Biol, Dept Genet, E-08071 Barcelona, Spain

Allikmets, R
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Ayuso, C
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del Río, T
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Dean, M
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Vilageliu, L
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Gonzàlez-Duarte, R
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Titin mutation segregates with hereditary myopathy with early respiratory failure
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Elliott, Hannah R.
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Griffin, Helen
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Barresi, Rita
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
Newcastle Hosp NHS Trust, Muscle Immunoanal Unit, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Miller, James
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Newcastle Upon Tyne Hosp NHS Fdn Trust, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Marsh, Julie
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Newcastle Hosp NHS Trust, Muscle Immunoanal Unit, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Evila, Anni
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Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland
Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki 00014, Finland Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Vihola, Anna
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机构:
Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland
Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki 00014, Finland Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Hackman, Peter
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h-index: 0
机构:
Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland
Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki 00014, Finland Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Straub, Volker
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Dick, David J.
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Newcastle Upon Tyne Hosp NHS Fdn Trust, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England
Norfolk & Norwich Univ Hosp, Dept Neurol, Norwich NR4 7UY, Norfolk, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Horvath, Rita
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Santibanez-Koref, Mauro
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Udd, Bjarne
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h-index: 0
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Univ Helsinki, Folkhalsan Inst Genet, FIN-00014 Helsinki, Finland
Univ Helsinki, Dept Med Genet, Haartman Inst, Helsinki 00014, Finland
Univ Hosp, Dept Neurol, Neuromuscular Res Ctr, Tampere 33520, Finland
Univ Tampere, Tampere 33520, Finland
Vaasa Cent Hosp, Dept Neurol, Vaasa 65130, Finland Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

Chinnery, Patrick F.
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Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
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MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England

McKenna, C.
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Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England

Baker, J.
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MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England

Laval, S.
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Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England

Lochmuller, H.
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Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England

Blanco, G.
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MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England MRC Mammalian Genet Unit, Harwell OX11 ORD, Berks, England
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An unusual myopathy caused by a novel mutation in PNPLA2 gene
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Silva, C. Santos
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Silva, C. Santos
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机构:
Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal
Univ Lisbon, Fac Med, Inst Med Mol, Lisbon, Portugal Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal

Goncalves, A.
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h-index: 0
机构:
Ctr Hosp Univ Lisboa Cent, Hosp Santa Marta, Cardiol Dept, Lisbon, Portugal Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal

Coelho, P.
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Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal

Roque, R.
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Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal
Ctr Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neuropathol Lab, Lisbon, Portugal Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal

de Campos, C. Falcao
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h-index: 0
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Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal
Univ Lisbon, Fac Med, Inst Med Mol, Lisbon, Portugal Ctro Hosp Univ Lisboa Norte, Hosp Santa Maria, Dept Neurosci & Mental Hlth, Neurol, Lisbon, Portugal
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Khavandgar, Simin
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Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

Hoover, Jacqueline M.
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Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

Mohsen, Al-Walid
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Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

Vockley, Jerry
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Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA
Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

Lacomis, David
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Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15213 USA

Clemens, Paula R.
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Kim, BJ
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Ki, CS
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Kim, JW
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Sung, DH
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Tanboon, Jantima
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand
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Rongsa, Kanjana
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Res & Dev,Siriraj Neurogenet Network, Bangkok, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand

Pithukpakorn, Manop
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h-index: 0
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Res & Dev,Siriraj Neurogenet Network, Bangkok, Thailand
Mahidol Univ, Siriraj Hosp, Fac Med, Dept Internal Med, Bangkok, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand

Boonyapisit, Kanokwan
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Res & Dev,Siriraj Neurogenet Network, Bangkok, Thailand
Mahidol Univ, Siriraj Hosp, Fac Med, Dept Internal Med, Bangkok, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand

Limwongse, Chanin
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h-index: 0
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Res & Dev,Siriraj Neurogenet Network, Bangkok, Thailand
Mahidol Univ, Siriraj Hosp, Fac Med, Dept Internal Med, Bangkok, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand

Sangruchi, Tumtip
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Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pathol, Bangkok 10700, Thailand
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Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy
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Aoki, M
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Nishino, I
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Hayashi, YK
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Sekiguchi, S
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Shiga, Y
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Takahashi, T
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Onodera, Y
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Haginoya, K
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Kobayashi, K
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Iinuma, K
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Nonaka, I
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Arahata, K
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Itoyoma, Y
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