Publications:

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

European Journal Of Human Genetics : Ejhg

Imperatore, Valentina V; Pinto, Anna Maria AM; Gelli, Elisa E; Trevisson, Eva E; Morbidoni, Valeria V; Frullanti, Elisa E; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Gusson, Elena E; Roversi, Gaia G; Accogli, Andrea A; Capra, Valeria V; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2018-07

Variant appearance in text: RB1: Thr841*

PubMed Link: 29662154

Variant Present in the following documents:

• Main text

View BVdb publication page