A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Abstract Background Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome se...

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Asıl Yazarlar: Akram Sarmadi (Yazar), Samane Nasrniya (Yazar), Maryam Soleimani Farsani (Yazar), Sina Narrei (Yazar), Zahra Nouri (Yazar), Mahsa Sepehrnejad (Yazar), Mohammad Hussein Nilforoush (Yazar), Hamidreza Abtahi (Yazar), Mohammad Amin Tabatabaiefar (Yazar)
Materyal Türü: Kitap
Baskı/Yayın Bilgisi: BMC, 2020-06-01T00:00:00Z.
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Yer Numarası: A1234.567
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