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Article

Characterization of von Hippel Lindau gene variants in an African American cohort.

HGG advances - 9 Jul 2026

Shao Yusra F, Duque Diana, Alloghbi Abdul-Rahman, Al Share Bayan, Kim Seongho, Kokenakes Courtney, Heath Elisabeth

Abstract excerpt

Autosomal-dominant (AD) pathogenic/likely pathogenic (P/LP) variants in von Hippel-Lindau (VHL) gene cause VHL disease. We characterize VHL variants and disease phenotypes in Black/African American (AA) patients, a demographic that has not been thoroughly studied. Black/AA patients undergoing germline genetic testing at a CLIA-certified commercial laboratory from November 2014 to March 2022 and carrying a P/LP AD...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42026869
DOI: 10.1016/j.xhgg.2026.100617
PMCID: PMC13207352

Genes

VHL

Variants

Provenance

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