Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.P997fs
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SHANK2

NM_133266.5:p.P997fs

Associated Papers

Paracentric inversion disrupting the SHANK2 gene.

Huyghebaert J et al.

European Journal of Medical Genetics, 2025

Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant.

Granocchio E et al.

European Child & Adolescent Psychiatry, 2025

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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."