Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R40delFs
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SMARCB1

NM_003073.5:p.R40delFs

Associated Papers

Modeling human brain rhabdoid tumor by inactivating tumor suppressor genes in induced pluripotent stem cells.

Hua T et al.

Bioactive Materials, 2024

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

Sellar Region Atypical Teratoid/Rhabdoid Tumors in Adults: Clinicopathological Characterization of Five Cases and Review of the Literature.

Paolini MA et al.

Journal of Neuropathology and Experimental Neurology, 2018

Pituitary atypical teratoid rhabdoid tumor in a patient with prolactinoma: A unique description.

Barresi V et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018

Sellar Region Atypical Teratoid/Rhabdoid Tumors (ATRT) in Adults Display DNA Methylation Profiles of the ATRT-MYC Subgroup.

Johann PD et al.

The American Journal of Surgical Pathology, 2018

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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."