Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.D494fs
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BAP1

NM_004656.4:p.D494fs

Associated Papers

Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

Carbone M et al.

Plos Genetics, 2015

26683624 (PubMed )
Supplement: pgen.1005633.s003.pdf

Genetics of familial melanoma: 20 years after CDKN2A.

Aoude LG et al.

Pigment Cell & Melanoma Research, 2015

The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment.

Battaglia A

Clinical Medicine Insights. Oncology, 2014

Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma.

Cheung M et al.

Cancer Genetics, 2013

Prevalence of germline BAP1 mutation in a population-based sample of uveal melanoma cases.

Aoude LG et al.

Pigment Cell & Melanoma Research, 2013

BAP1 and cancer.

Carbone M et al.

Nature Reviews. Cancer, 2013

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