Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R373Splc
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SMARCB1

NM_003073.5:p.R373Splc

Associated Papers

High-throughput screening of human genetic variants by pooled prime editing.

Herger M et al.

Cell Genomics, 2025

40120586 (PubMed )
Supplement: mmc11.pdf

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.

Smith MJ et al.

Neurogenetics, 2012

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.

Hadfield KD et al.

Journal of Medical Genetics, 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."