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NSHL and SHL genes in TruSight® Exome.

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posted on 2015-11-11, 03:10 authored by Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

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    Keywords

    Autosomal Recessive Nonsyndromic Hearing Loss Comprehensivegeneration sequencing panelmendelian exome sequencing29 familiesGJB 2autosomal recessive nonsyndromic hearing lossIllum ına TruSightTM ExomeGPSMdeafness genesindividualmutation detection rateautosomal recessive inheritanceworkflowLOXHD102 deafness genesMendelian disordershearing losssequencing approach14 familiesNSHL genestmcComprehensive Analysis1gGJB 2 variantsushmyoTurkish cohortarnshlMARVELDcdhcochlear implantTMIE7adfnb2761 genes15A

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