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Article

Comprehensive analysis of syndromic hearing loss patients in Japan

19 Aug 2019

Abstract excerpt

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small...

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PMID: 31427586
DOI: 10.1038/s41598-019-47141-4

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