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- W2100851504 abstract "In the present study, the authors reported a family of a male proband with prelingual, profound non-syndromic hearing impairment homozygous for p.W24X mutation in GJB2gene, arising as a result of maternal uniparental disomy of a part of chromosome 13q. Key words: Hearing impairment, p.W24X mutation, uniparental disomy." @default.
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- W2100851504 date "2010-06-30" @default.
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- W2100851504 title "A rare event of maternal UPD in a proband with congenital non-syndromic hearing impairment with homozygosity for gjb2 p.w24x mutation" @default.
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- W2100851504 doi "https://doi.org/10.5897/ijgmb.9000004" @default.
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