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An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder
BACKGROUND: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function. OBJECTIVE: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family. METHODS: A four-generation consangui...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Curr Genomics |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Bentham Science Publishers
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6030853/ https://ncbi.nlm.nih.gov/pubmed/30065612 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1389202919666171113152951 |
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