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

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 patients whose initial symptoms i...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Doll, Julia, Kolb, Susanne, Schnapp, Linda, Rad, Aboulfazl, Rüschendorf, Franz, Khan, Imran, Adli, Abolfazl, Hasanzadeh, Atefeh, Liedtke, Daniel, Knaup, Sabine, Hofrichter, Michaela AH, Müller, Tobias, Dittrich, Marcus, Kong, Il-Keun, Kim, Hyung-Goo, Haaf, Thomas, Vona, Barbara
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6982189/
https://ncbi.nlm.nih.gov/pubmed/31906439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21010311
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