Varaico: Literature-Extracted Genetic Variants

Gene:SMARCC1
Variant:p.T417K
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SMARCC1

NM_003074.4:p.T417K

Associated Papers

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

Chen CA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."