Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.V84L
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SHANK3

NM_001372044.2:p.V84L

Associated Papers

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.

Levy T et al.

Journal of Neurodevelopmental Disorders, 2024

38730350 (PubMed )
Supplement: 11689_2024_9541_MOESM1_ESM.xlsx › Sheet1

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders.

Woike D et al.

Scientific Reports, 2022

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

Owji H et al.

Journal of Molecular Neuroscience : Mn, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."