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Article

In Silico Elucidation of Deleterious Non-synonymous SNPs in SHANK3, the Autism Spectrum Disorder Gene.

Journal of molecular neuroscience : MN - 1 Oct 2020

Owji Hajar, Eslami Mahboobeh, Nezafat Navid, Ghasemi Younes

Abstract excerpt

SHANK3, a member of SH3 and multiple ankyrin repeat domains (SHANK) proteins, plays a crucial role in synaptic development and functions. Mutations in SHANK3 have been linked to a number of neuropsychiatric and neurodevelopmental disorders, including autism spectrum disorder. In this study, the functional and structural impacts of non-synonymous single-nucleotide polymorphisms (SNPs) on SHANK3 were predicted....

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PMID: 32519210
DOI: 10.1007/s12031-020-01552-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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