Supplemental material
AssayResult: 61
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
Supplemental material
AssayResult: 61
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.375G>A p.?