Database of Pathogenic Variants
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Gene Detail
Gene Symbol
GJB3
Gene:2707
HGNC:4285
Gene Name
gap junction protein beta 3
Chromosome
1
Cytogenetic Band
p34.3
RefSeq Accession
NM_024009
Associated Diseases
Partial deafness
Associated Variants
NM_001005752:c.250G>A
NM_001005752:c.580G>A