Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.V550fs
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BAP1

NM_004656.4:p.V550fs

Associated Papers

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.

Drabarek W et al.

Investigative Ophthalmology & Visual Science, 2019

31425584 (PubMed )
Supplement: iovs-60-08-34_s03.xlsx › Sheet1

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

Haugh AM et al.

Jama Dermatology, 2017

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
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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."