Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.Q847delFs
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SHANK2

NM_012309.5:p.Q847delFs

Associated Papers

Paracentric inversion disrupting the SHANK2 gene.

Huyghebaert J et al.

European Journal of Medical Genetics, 2025

11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.

Zhang Q et al.

Molecular Genetics & Genomic Medicine, 2023

37475652 (PubMed )
Supplement: MGG3-11-e2248-s002.xlsx › SHANK2

Identification of novel SHANK2 variants in two Chinese families via exome and RNA sequencing.

Wu Y et al.

Frontiers in Neuroscience, 2023

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

Zhou WZ et al.

Human Mutation, 2019

30763456 (PubMed )
Supplement: HUMU-40-801-s001.pdf
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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."