Article

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes

2024-10-11

Abstract excerpt

<h4>Purpose</h4> Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- NF1 RAS/mitogen-activated protein kinase genes (RASopathies). <h4>Patients and Methods</h4> Germline RASopathy variants were examined from adult participants in UK Biobank...

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Literature Corpus work: ea7a5fbf-d494-5b82-b7b6-170a05b68e34
DOI: 10.1101/2024.10.09.24314324

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