Genotype–phenotype associations among panel-based TP53+ subjects

Huma Q. Rana, Jacob Clifford, Lily Hoang, Holly LaDuca, Mary Helen Black, Shuwei Li, Kelly McGoldrick, Virginia Speare, Jill S. Dolinsky, Chia-Ling Gau, Judy E. Garber
2019 Genetics in Medicine  
Panel testing has led to the identification of TP53 pathogenic/likely pathogenic (P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype-phenotype associations among TP53+ panel-ascertained subjects.
doi:10.1038/s41436-019-0541-y pmid:31105275 fatcat:s3m3gk7ma5hsbodxm2vtlxuy5q