Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.D73fs
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BAP1

NM_004656.4:p.D73fs

Associated Papers

Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.

Nell RJ et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40240901 (PubMed )
Supplement: 13046_2025_3374_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab.

Johansson PA et al.

Immunogenetics, 2019

BAP1 Syndrome - Predisposition to Malignant Mesothelioma, Skin and Uveal Melanoma, Renal and Other Cancers.

Foretová L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Johansson P et al.

Oncotarget, 2016

[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].

Macháčková E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016

[Surgical prevention of breast carcinoma in patients with hereditary risk].

Dražan L et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

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