Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.L356delFs
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SMARCB1

NM_003073.5:p.L356delFs

Associated Papers

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.

Kehrer-Sawatzki H et al.

Familial Cancer, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

Guo Z et al.

Acta Biochimica Et Biophysica Sinica, 2024

39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1

Acquired cystic disease associated renal cell carcinoma: A clinicopathologic and molecular study of 31 tumors.

Palathingal Bava E et al.

Human Pathology, 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

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.

Keskinen S et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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