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Disease causing variants and variants of uncertain significance in HL probands.

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posted on 2018-01-02, 18:33 authored by Tina Likar, Mensuda Hasanhodžić, Nataša Teran, Aleš Maver, Borut Peterlin, Karin Writzl

Disease causing variants and variants of uncertain significance in HL probands.

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    exome sequencing26ACHD2A3BGJB 2 subgroupHDACTECTAOTOFGJB 2 HLClinical exome sequencingGJB 2 variantsnon-syndromic hearing loss Hereditary hearing lossSFUSHTMPRSSMITFNEFLSLCsyndromic HL

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