Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.L356fs
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SMARCB1

NM_003073.5:p.L356fs

Associated Papers

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

Kehrer-Sawatzki H et al.

Familial Cancer, 2025

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Guo Z et al.

Acta Biochimica Et Biophysica Sinica, 2024

39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.

Brugmans AK et al.

Cellular and Molecular Neurobiology, 2023

37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM1_ESM.pdf

Comprehensive Genomic Analysis of Metastatic Non-Clear-Cell Renal Cell Carcinoma to Identify Therapeutic Targets.

Carlo MI et al.

Jco Precision Oncology, 2019

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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."