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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

BACKGROUND: Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The identificati...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Ilyas, Muhammad, Efthymiou, Stephanie, Salpietro, Vincenzo, Noureen, Nuzhat, Zafar, Faisal, Rauf, Sobiah, Mir, Asif, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7092478/
https://ncbi.nlm.nih.gov/pubmed/32209057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-00998-z
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