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

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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Main Author: Julia Doll (5237840) (author)
Other Authors: 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)
Published: 2020
Subjects:
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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