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Novel Loss-of-Function Variants in CDC14A Are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

Julia Doll,Susanne Kolb,Linda Schnapp,Aboulfazl Rad,Franz Ruschendorf,Imran Khan,Abolfazl Adli,Atefeh Hasanzadeh,Daniel Liedtke,Sabine Knaup,Michaela A. H. Hofrichter,Tobias Mueller,Marcus Dittrich,Il-Keun Kong,Hyung-Goo Kim,Thomas Haaf,Barbara Vona

International Journal of Molecular Sciences（2020）

引用 8|浏览36
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关键词
CDC14A,DFNB32,autosomal recessive hearing loss,exome sequencing,splicing,frameshift,non-sense mediated mRNA decay
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