Publications:

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Plos One

Rivera-Barahona, Ana A; Sánchez-Alcudia, Rocío R; Viecelli, Hiu Man HM; Rüfenacht, Veronique V; Pérez, Belén B; Ugarte, Magdalena M; Häberle, Johannes J; Thöny, Beat B; Desviat, Lourdes Ruiz LR

Publication Date: 2015

Variant appearance in text: NF1: 386A>G

PubMed Link: 25853564

Variant Present in the following documents:

• Main text
• pone.0122966.pdf

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