Article

Novel MAPK/AKT-impairing germline <i>NRAS</i> variant identified in a melanoma-prone family

2021-04-20

Abstract excerpt

While several high-penetrance melanoma risk genes are known, variation in these genes fail to explain melanoma susceptibility in a large proportion of high-risk families. As part of a melanoma family sequencing study, including 435 families from Mediterranean populations, we identified a novel NRAS variant (c.170A>C, p.D57A) in a melanoma-prone family. This variant is absent in exomes in gnomAD, ESP, UKBiobank, an...

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Literature Corpus work: 37eec411-3c30-5eca-915e-e781de7b3bb7
DOI: 10.1101/2021.04.20.21254596

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