Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L570fs
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BAP1

NM_004656.4:p.L570fs

Associated Papers

The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group.

van Poppelen NM et al.

Investigative Ophthalmology & Visual Science, 2024

Germline BRCA1-associated protein 1 mutation presenting as BAP1 inactivated melanocytic nevi in a child of a father with fatal paraganglioma.

Watchorn RE et al.

Pediatric Dermatology, 2018

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

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

BAP1 and cancer.

Carbone M et al.

Nature Reviews. Cancer, 2013

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.

Wadt K et al.

Pigment Cell & Melanoma Research, 2012

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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."