Publications:

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Scientific Reports

Fuster-García, Carla C; García-García, Gema G; Jaijo, Teresa T; Fornés, Neus N; Ayuso, Carmen C; Fernández-Burriel, Miguel M; Sánchez-De la Morena, Ana A; Aller, Elena E; Millán, José M JM

Publication Date: 2018-11-20

Variant appearance in text: USH2A: 13926dupA

PubMed Link: 30459346

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35085.pdf

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