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  • Molecular assay reagents intended to identify mutations in the gap junction protein, beta 6 (connexin 30) (GJB6), located at chromosome 13q12, which encodes for the protein connexin 30 that forms channels called gap junctions between neighboring cells. Mutations at this locus have been identified in patients with both neurosensory nonsyndromic hearing loss and deafness type 3 (NSHLD3); they are also present in patients with hydrotic ectodermal dysplasia (Clouston\'s syndrome, HED2).
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