Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome
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Elsevier BV
Reference42 articles.
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2. The Usher syndrome type IIIB histidyl-tRNA synthetase mutation confers temperature sensitivity;Abbott;Biochemistry,2017
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4. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr. Protoc. Hum. Genet.,2013
5. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F;Ammar-Khodja;Eur. J. Med. Genet.,2009
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