Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.A549delFs
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BAP1

NM_004656.4:p.A549delFs

Associated Papers

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

Germline BAP1 mutations predispose to renal cell carcinomas.

Popova T et al.

American Journal of Human Genetics, 2013

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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."