Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC2
Variant:p.Q420insFs
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SMARCC2

NM_001330288.2:p.Q420insFs

Associated Papers

A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.

Smith JA et al.

American Journal of Medical Genetics. Part A, 2016

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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."