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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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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Int J Mol Sci
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: MDPI 2020
Θέματα:
Διαθέσιμο Online: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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