Publications:

Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance.

Science Advances

Toufektchan, Eléonore E; Lejour, Vincent V; Durand, Romane R; Giri, Neelam N; Draskovic, Irena I; Bardot, Boris B; Laplante, Pierre P; Jaber, Sara S; Alter, Blanche P BP; Londono-Vallejo, José-Arturo JA; Savage, Sharon A SA; Toledo, Franck F

Publication Date: 2020-04

Variant appearance in text: TERT: W203S

PubMed Link: 32300648

Variant Present in the following documents:

• Main text
• aay3511.pdf
• aay3511_SM.pdf

View BVdb publication page