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Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss

August 6, 2024

Khateb S., Zelinger L., Ben-Yosef T., Merin S., Crystal-Shalit O., Gross M., Banin E., Sharon D. (2012) Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss. PLoS One. 7(12), e51566.

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