Skip to content
Log in
Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Sara Romero-Vázquez

View on Semantic Scholar

1 paper indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Aug 2026

Association of ABHD12 Variants with the Spectrum of PHARC Syndrome Phenotypes

The study shows the importance of a complete clinical and genetic diagnosis to enable accurate diagnosis and genetic counselling for affected individuals and reports a novel variant c.985del p.(His329Thrfs*57) associated with PHARC syndrome.

Sara Romero-Vázquez, Cécile Méjécase, A. Rodriguez-Martinez et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.