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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2004 Jan;41(1):e9. doi: 10.1136/jmg.2003.012286

A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss

I Nagy, M Horvath, M Trexler, G Repassy, L Patthy
PMCID: PMC1757273  PMID: 14729849

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