Publications:

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.

Scientific Reports

González-Del Pozo, María M; Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Chimenea, Ángel Á; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2018-09-06

Variant appearance in text: ABCA4: Glu1966Glu

PubMed Link: 30190494

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31511.pdf

View BVdb publication page