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Functional characterization of the 9q34.13 locus identifies <i>RAPGEF1</i> as modulating risk for melanoma and nevi via RAS activation

2025-12-07

Abstract excerpt

Genome-wide association studies identified a melanoma- and nevus count-associated locus on chromosome band 9q34.13. Fine-mapping and melanocyte expression data collectively suggest two potential causal genes with opposite association with risk: higher levels of Rap guanine nucleotide exchange factor 1 ( RAPGEF1 ) and lower levels of uridine-cytidine kinase 1 ( UCK1 ). Colocalization analyses and conditional TWAS...

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Literature Corpus work
89841923-5a3a-570b-b335-d90bccc7393e
DOI
10.64898/2025.12.03.691936
Open publication

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Functional characterization of the 9q34.13 locus identifies <i>RAPGEF1</i> as modulating risk for melanoma and nevi via RAS activationDOI 10.64898/2025.12.03.691936
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