Comparative functional characterization of novel non-syndromic GJB2 gene variant p.Gly45Arg and lethal syndromic variant p.Gly45Glu
We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PeerJ Inc.
2016-10-01
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| Series: | PeerJ |
| Subjects: | |
| Online Access: | https://peerj.com/articles/2494.pdf |