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Article

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Nature genetics - 1 Jul 2024

Buckley Megan, Terwagne Chloé, Ganner Athina, Cubitt Laura, Brewer Reid, Kim Dong-Kyu, Kajba Christina M, Forrester Nicole, Dace Phoebe, De Jonghe Joachim, Shepherd Scott T C, Sawyer Chelsea, McEwen Mairead, Diederichs Sven, Neumann-Haefelin Elke, Turajlic Samra, Ivakine Evgueni A, Findlay Gregory M

Abstract excerpt

To maximize the impact of precision medicine approaches, it is critical to identify genetic variants underlying disease and to accurately quantify their functional effects. A gene exemplifying the challenge of variant interpretation is the von Hippel-Lindautumor suppressor (VHL). VHL encodes an E3 ubiquitin ligase that regulates the cellular response to hypoxia. Germline pathogenic variants in VHL predispose...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

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Identifiers

PMID: 38969834
DOI: 10.1038/s41588-024-01800-z
PMCID: PMC11250436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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