Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L180P
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BAP1

NM_004656.4:p.L180P

Associated Papers

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM12_ESM.zip › source_data_figure_6 › source_data_fig_6_ce.xlsx › source_data_fig_6_c

Family Matters: Germline Testing in Thoracic Cancers.

Hathaway F et al.

American Society of Clinical Oncology Educational Book. American Society of Clinical Oncology. Annual Meeting, 2023

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.

Sharma A et al.

Cancers, 2019

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S et al.

Journal of the National Cancer Institute, 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

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

Rai K et al.

Clinical Genetics, 2016

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