An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.

Conclusion: Our study suggested that the c.1236delC alteration in the otoferlin gene may be the disease-causing variant in this family, and also shed new light on genetic counseling to this ANSD family. PMID: 30065612 [PubMed]
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research