Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype

BACKGROUND: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifes...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7788915/
https://ncbi.nlm.nih.gov/pubmed/33407644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01648-6
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