Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.P374fs
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SMARCB1

NM_001007468.3:p.P374fs

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

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

Fleischmann LS et al.

Neuro-oncology, 2025

Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma.

Lee OW et al.

European Thyroid Journal, 2025

39773491 (PubMed )
Supplement: supplementary_materials.pdf

Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.

Greene BL et al.

Frontiers in Oncology, 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_MOESM1_ESM.pdf

An institutional review of genomic sequencing in pediatric solid tumors.

Turco GM et al.

Pediatric Blood & Cancer, 2023

Case Report: A rare synchronous multiple gastric carcinoma achieved progression-free disease through NGS-guided serial treatment.

Shao X et al.

Frontiers in Oncology, 2023

37496667 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.

O'Halloran K et al.

Neuro-oncology Advances, 0

37461402 (PubMed )
Supplement: vdad077_suppl_supplementary_table_s1.xlsx › Finalized_table
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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."