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: USH2A: 12457del; Ala4153Profs*14

PubMed Link: 30190494

Variant Present in the following documents:

• Main text
• 41598_2018_Article_31511.pdf

View BVdb publication page

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Plos One

Pérez-Carro, Raquel R; Blanco-Kelly, Fiona F; Galbis-Martínez, Lilián L; García-García, Gema G; Aller, Elena E; García-Sandoval, Blanca B; Mínguez, Pablo P; Corton, Marta M; Mahíllo-Fernández, Ignacio I; Martín-Mérida, Inmaculada I; Avila-Fernández, Almudena A; Millán, José M JM; Ayuso, Carmen C

Publication Date: 2018

Variant appearance in text: USH2A: 12457delG

PubMed Link: 29912909

Variant Present in the following documents:

• Main text
• pone.0199048.pdf

View BVdb publication page