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A truncating mutation in GPSM2 is associated with recessive nonsyndromic hearing loss

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive nonsyndromic hearing loss DFNB82. Here, we report...

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Main Authors: Yariz, Kemal O., Walsh, Tom, Akay, Hatice, Duman, Duygu, Akkaynak, Adil Cinar, King, Mary-Claire, Tekin, Mustafa
格式: Artigo
語言:Inglês
出版: 2011
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3657750/
https://ncbi.nlm.nih.gov/pubmed/21348867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01654.x
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