Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.T205I
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SMARCB1

NM_003073.5:p.T205I

Associated Papers

"De novo replication repair deficient glioblastoma, IDH-wildtype" is a distinct glioblastoma subtype in adults that may benefit from immune checkpoint blockade.

Hadad S et al.

Acta Neuropathologica, 2023

38079020 (PubMed )
Supplement: 401_2023_2654_MOESM2_ESM.xlsx › Table_S3

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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