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Identification of Copy Number Variants Through Whole-Exome Sequencing in Autosomal Recessive Nonsyndromic Hearing Loss

Genetic variants account for more than half of the cases with congenital or prelingual onset hearing loss. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common subgroup. Whole-exome sequencing (WES) has been shown to be effective detecting deafness-causing single-nucleotide vari...

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Dettagli Bibliografici
Autori principali: Bademci, Guney, Diaz-Horta, Oscar, Guo, Shengru, Duman, Duygu, Van Booven, Derek, Foster II, Joseph, Cengiz, Filiz Basak, Blanton, Susan, Tekin, Mustafa
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc. 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4150376/
https://ncbi.nlm.nih.gov/pubmed/25062256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2014.0121
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