A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.

Manzoor, Humera; Zahid, Hafsa; Emerling, Christopher A; Kumar, Kishore R; Hussain, Hafiz Muhammad Jafar; Seo, Go Hun; Wajid, Muhammad; Naz, Sadaf

Manzoor, Humera; Zahid, Hafsa; Emerling, Christopher A; Kumar, Kishore R; Hussain, Hafiz Muhammad Jafar; Seo, Go Hun; Wajid, Muhammad; Naz, Sadaf.

Afiliação

Manzoor H; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.
Zahid H; Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.
Emerling CA; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.
Kumar KR; Biology Department, Reedley College, Reedley, CA, 93654, USA.
Hussain HMJ; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord Clinical School Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Seo GH; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Wajid M; School of Biological Sciences, University of the Punjab, Quaid-e-Azam Campus, Lahore, 54590, Pakistan.
Naz S; 3billion inc, Seoul, South Korea.

Eur J Hum Genet ; 31(6): 629-637, 2023 06.

Article em En | MEDLINE | ID: mdl-36797467

Assuntos

Transtorno do Espectro Autista; Epilepsia; Humanos; Homozigoto; Epilepsia/genética; Frequência do Gene; Mutação de Sentido Incorreto; Fenótipo; Linhagem; Proteínas de Ligação a RNA/genética

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Epilepsia / Transtorno do Espectro Autista Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Paquistão

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