Exome sequencing identifies novel and known mutations in families with intellectual disability

BACKGROUND: Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. METHODS: In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected individuals...

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Detalles Bibliográficos
Autores principales: Rasheed, Memoona, Khan, Valeed, Harripaul, Ricardo, Siddiqui, Maimoona, Malik, Madiha Amin, Ullah, Zahid, Zahid, Muhammad, Vincent, John B., Ansar, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8399827/
https://www.ncbi.nlm.nih.gov/pubmed/34452636
http://dx.doi.org/10.1186/s12920-021-01066-y

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