Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in tuvinians (Southern siberia, russia)

GJB2, Hearing loss, Nonsyndromic autosomal recessive deafness 1A (DFNB1A), Russia, Southern Siberia, Tuvinians, POPULATION, nonsyndromic autosomal recessive deafness 1A (DFNB1A), CONNEXIN-30 GENE, GENOTYPE, AMINO-ACID SUBSTITUTIONS, SENSORINEURAL HEARING IMPAIRMENT, DELETION, REGION, CONSEQUENCES, HIGH-FREQUENCY, hearing loss, PROMOTER

ID: 20839016

Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in tuvinians (Southern siberia, russia): A high prevalence of rare variant c.516G>C (p.trp172Cys)