- Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
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Kim J, Jung J, Lee MG, Choi JY, Lee KA
- KMID: 2155423
- Exp Mol Med.
- 2015 Jun;47(6):e169.
- doi: 10.1038/emm.2015.32
GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation... -
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