2018•Human GeneticsRequires access

Implication of non-coding PAX6 mutations in aniridia

Julie Plaisancié, M. Tarilonte, Patrícia Locosque Ramos, Claire Jeanton-Scaramouche, Véronique Gaston, Hélène Dollfus, Dora Aguilera, J.‐C. Kaplan, Lucas Fares‐Taie, Fiona Blanco‐Kelly, Cristina Villaverde, Christine Francannet, Alice Goldenberg, Ignacio Arroyo, Jean‐Michel Rozet, Carmen Ayuso, Nicolas Chassaing, Patrick Calvas, Marta Cortón

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Key concepts: Biology, PAX6, Aniridia, Genetics, Coding region, Gene, Locus (genetics), Epigenomics