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Genetic subtypes, allelic effects, and convergent neurodevelopmental mechanisms

High-throughput sequencing of large affected cohorts have helped uncover a plethora of risk genes for complex neurodevelopmental disorders. However, untangling complex disease etiology also involves understanding the functional consequences of these mutations in order to connect risk variants to res...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Das, Maitreya, Girirajan, Santhosh
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8182898/
https://ncbi.nlm.nih.gov/pubmed/34099044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-021-00913-y
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