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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosi...

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Detalles Bibliográficos
Autores principales:	Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586153/ https://www.ncbi.nlm.nih.gov/pubmed/34764295 http://dx.doi.org/10.1038/s41525-021-00255-z

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