NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23535
Abstract: RASopathies include a group of syndromes caused by pathogenic germline variants in RAS‐MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy‐associated genes have been reported in… read more here.
Keywords: utility; ngs testing; rasopathy associated; adding rasopathy ... See more keywords
P60.09 Real-World Readiness of US Laboratories to Test Metastatic NSCLC Patients for Rare Actionable Genomic Variants by NGS
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2021.08.630
Abstract: Introduction: Various rare driver genomic variants have been investigated in metastatic non-squamous non-small cell lung cancer (mNSCLC). Individually they are considered rare ( read more here.
Keywords: medicine; real world; mnsclc; genomic variants ... See more keywords