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Article

Analysis of BAP1 Germline Gene Mutation in Young Uveal Melanoma Patients.

Ophthalmic genetics - 1 Jun 2015

Cebulla Colleen M, Binkley Elaine M, Pilarski Robert, Massengill James B, Rai Karan, Liebner David A, Marino Meghan J, Singh Arun D, Abdel-Rahman Mohamed H

Abstract excerpt

BACKGROUND: To evaluate the prevalence of BAP1 germline mutations in a series of young patients with uveal melanoma (UM), diagnosed before age 30. MATERIALS AND METHODS: The study was carried out on 14 young uveal melanoma patients (average age 21.4 years, range 3 months to 29 years). Germline DNA was extracted from peripheral blood. BAP1 sequencing was carried out using direct sequencing of all exons and...

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Source

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Identifiers

PMID: 25687217
DOI: 10.3109/13816810.2015.1010734
PMCID: PMC4540182

Genes

BAP1
CDK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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