Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R373K
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SMARCB1

NM_003073.5:p.R373K

Associated Papers

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

Herger M et al.

Cell Genomics, 2025

40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S3

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Caltabiano R et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2017

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H et al.

Human Genetics, 2017

Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.

Paganini I et al.

Human Pathology, 2015

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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."