Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Guillaume Olivier, Marta Corton, Daniela Intartaglia, Sanne K Verbakel, Panagiotis I Sergouniotis, Guylène Le Meur, Claire-Marie Dhaenens, Hélène Naacke, Almudena Avila-Fernández, Carel B Hoyng, Jeroen Klevering, Béatrice Bocquet, Agathe Roubertie, Audrey Sénéchal, Sandro Banfi, Agnès Muller, Christian L Hamel, Graeme C Black, Ivan Conte, Susanne Roosing, Xavier Zanlonghi, Carmen Ayuso, Isabelle Meunier, Gaël Manes
Journal of Medical Genetics Aug 2021, 58 (8) 570-578; DOI: 10.1136/jmedgenet-2020-107150