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

<p dir="ltr">CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. To date, only nine variants have been associated in pati...

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المؤلف الرئيسي:	Julia Doll (5237840) (author)
مؤلفون آخرون:	Susanne Kolb (620340) (author), Linda Schnapp (18718837) (author), Aboulfazl Rad (12194015) (author), Franz Rüschendorf (73756) (author), Imran Khan (109715) (author), Abolfazl Adli (18719035) (author), Atefeh Hasanzadeh (18117192) (author), Daniel Liedtke (6832463) (author), Sabine Knaup (18719038) (author), Michaela AH Hofrichter (18719041) (author), Tobias Müller (163591) (author), Marcus Dittrich (167737) (author), Il-Keun Kong (85884) (author), Hyung-Goo Kim (728597) (author), Thomas Haaf (342924) (author), Barbara Vona (5237843) (author)
منشور في:	2020
الموضوعات:	Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Neurosciences CDC14A DFNB32 autosomal recessive hearing loss exome sequencing splicing frameshift non-sense mediated mRNA decay
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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

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