Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.E31G
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SMARCB1

NM_003073.5:p.E31G

Associated Papers

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Kehrer-Sawatzki H et al.

Familial Cancer, 2025

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation.

Lee JH et al.

Medicina (kaunas, Lithuania), 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."