Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
BMC Medical Genetics(2017)
摘要
This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.
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关键词
WFS1, Low-frequency hearing loss, Nonsyndromic hearing loss, Autosomal dominant
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