Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 MUTATION
TP53 MUTATION
Associated Disease
Turner syndrome
Source Database
DisGeNET
Description
Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome.
Pubmed
25935441
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs