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Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

The TERT/CLPTM1L risk locus on chromosome 5p15.33 is a pleiotropic cancer risk locus in which multiple independent risk alleles have been identified, across well over ten cancer types. We previously conducted a genome-wide association study in uveal melanoma (UM), which uncovered a role for the TERT...

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Detalles Bibliográficos
Autores principales: Derrien, Anne-Céline, Houy, Alexandre, Ganier, Olivier, Dingli, Florent, Ningarhari, Massih, Mobuchon, Lenha, Espejo Díaz, María Isabel, Loew, Damarys, Cassoux, Nathalie, Cussenot, Olivier, Cancel-Tassin, Géraldine, Margueron, Raphael, Noirel, Josselin, Zucman-Rossi, Jessica, Rodrigues, Manuel, Stern, Marc-Henri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9748249/
https://www.ncbi.nlm.nih.gov/pubmed/36459980
http://dx.doi.org/10.1016/j.ajhg.2022.11.004