Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.D552fs
Back to variants list

BAP1

NM_004656.4:p.D552fs

Associated Papers

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome.

Abbassi YA et al.

Familial Cancer, 2023

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."