RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Detalles Bibliográficos
Autores principales: Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Letters to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174030/
https://www.ncbi.nlm.nih.gov/pubmed/32227164
http://dx.doi.org/10.1093/brain/awaa070

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