Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.G435delFs
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BAP1

NM_004656.4:p.G435delFs

Associated Papers

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.

West EC et al.

Clinical Genetics, 2024

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

A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression.

Wiesner T et al.

The American Journal of Surgical Pathology, 2012

Germline mutations in BAP1 predispose to melanocytic tumors.

Wiesner T et al.

Nature Genetics, 2011

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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."