Condition: Deafness, Autosomal Dominant 36


rs121908072 in TMC1 gene and Deafness, Autosomal Dominant 36 PMID 11850618 2002 Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 17250663 2007 The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype.

PMID 19180119 2009 Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.