Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.D202fs
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SMARCB1

NM_003073.5:p.D202fs

Associated Papers

Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.

Fleischmann LS et al.

Neuro-oncology, 2025

A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature.

Qi M et al.

Frontiers in Neurology, 2023

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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."