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A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Identification of genes with variants causing non-syndromic hearing loss (NSHL) is challenging due to genetic heterogeneity. The difficulty is compounded by technical limitations that in the past prevented comprehensive gene identification. Recent advances in technology, using targeted capture and n...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Hum Genet
Κύριοι συγγραφείς: Wang, Li, Feng, Yong, Yan, Denise, Qin, Litao, Grati, M’hamed, Mittal, Rahul, Li, Tao, Sundhari, Abhiraami Kannan, Liu, Yalan, Chapagain, Prem, Blanton, Susan H., Liao, Shixiu, Liu, Xuezhong
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2018
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6560636/
https://ncbi.nlm.nih.gov/pubmed/29860631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1895-y
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