Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.E330*
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SMARCB1

NM_003073.5:p.E330*

Associated Papers

High-throughput screening of human genetic variants by pooled prime editing.

Herger M et al.

Cell Genomics, 2025

40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H et al.

Human Genetics, 2017

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Hulsebos TJ et al.

Genes, Chromosomes & Cancer, 2016

Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.

Ji J et al.

Neuro-oncology Advances, 0

33948563 (PubMed )
Supplement: vdab037_suppl_supplementary_table_1.xlsx › Sheet1
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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."