Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.L632insFs
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SHANK2

NM_133266.5:p.L632insFs

Associated Papers

Paracentric inversion disrupting the SHANK2 gene.

Huyghebaert J et al.

European Journal of Medical Genetics, 2025

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.

Doddato G et al.

Genes, 2022

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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."