Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.P1645P
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SHANK3

NM_001372044.2:p.P1645P

Associated Papers

Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.

Srinath S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.

Waga C et al.

Psychiatric Genetics, 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."