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Citation

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. Journal of medical genetics. 2014 Jul;51(7):460-9


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