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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SHANK2

Variant:p.I441fs

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SHANK2

NM_133266.5:p.I441fs

hg38:chr11:70487208 GAT>N

Associated Papers

Paracentric inversion disrupting the SHANK2 gene.

Huyghebaert J et al.

European Journal of Medical Genetics, 2025

40057302 (PubMed )

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

Caumes R et al.

European Journal of Medical Genetics, 2020

32987185 (PubMed )

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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."