Translational bypass of nonsense mutations in zebrafish rep1 , pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

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Oxford University Press

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John Wiley & Sons Inc

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Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2 1Neu +/– mutant mice

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Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology

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