Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.A502fs
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BAP1

NM_004656.4:p.A502fs

Associated Papers

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Chen F et al.

Nature Communications, 2017

28775315 (PubMed )
Supplement: 41467_2017_289_MOESM7_ESM.xlsx › mutation_data
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