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TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Hereditary hearing loss (HHL) is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal dominant non-syndromic hearing loss (ADNSHL) we...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji, Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267685/
https://ncbi.nlm.nih.gov/pubmed/24729539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22557
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