Author:
Perez-Roustit Sarah,Marquette Virginie,Bocquet Béatrice,Kaplan Josseline,Perrault Isabelle,Meunier Isabelle,Hamel Christian P.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Ophthalmology,General Medicine
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3. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations;Khan;Ophthalmic Genet,2015
4. A novel KCNJ13 nonsense mutation and loss of Kir7.1 channel function causes Leber congenital amaurosis (LCA16);Pattnaik;Hum Mutat,2015
5. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations;Bockenhauer;N Engl J Med,2009
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