Regulatory de novo mutations underlying intellectual disability

The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory DNMs is still poorly understood. We sequenced 63 whole genomes from 21 ID proband...

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Detalles Bibliográficos
Autores principales: De Vas, Matias G, Boulet, Fanny, Joshi, Shweta S, Garstang, Myles G, Khan, Tahir N, Atla, Goutham, Parry, David, Moore, David, Cebola, Inês, Zhang, Shuchen, Cui, Wei, Lampe, Anne K, Lam, Wayne W, Ferrer, Jorge, Pradeepa, Madapura M, Atanur, Santosh S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978454/
https://www.ncbi.nlm.nih.gov/pubmed/36854624
http://dx.doi.org/10.26508/lsa.202201843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978454/
https://www.ncbi.nlm.nih.gov/pubmed/36854624
http://dx.doi.org/10.26508/lsa.202201843

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