Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.E178_N179del2
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SMARCB1

NM_003073.5:p.E178_N179del2

Associated Papers

Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar.

Satish S et al.

Cancer Genetics, 2025

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_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations
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