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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05-07-2017
Symbol DFNB34
Location 6q22.31
HGNC id 17143
Name neurosensory deafness 34
Corresponding gene GJA1
Other symbol(s) DFNB30
Main clinical features profound prelingual
Genetic determination autosomal recessive
Function/system disorder ear
Type disease
Gene product
Name gap junction protein, alpha1, annexin 43
Remark(s)