Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.M1V
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SHANK3

NM_001372044.2:p.M1V

Associated Papers

Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.

Ghalamkari S et al.

American Journal of Medical Genetics. Part A, 2025

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Sajan SA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A et al.

Molecular Psychiatry, 2011

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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."