Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.H68_T72Fs
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SMARCB1

NM_003073.5:p.H68_T72Fs

Associated Papers

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.

Holsten T et al.

European Journal of Human Genetics : Ejhg, 2018

Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.

Sestini R et al.

Human Mutation, 2008

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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."