Condition: Deafness, Autosomal Dominant 20
rs104894545 in
ACTG1 gene and
Deafness, Autosomal Dominant 20
PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
PMID 16773128 2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
rs281875330 in
ACTG1;FSCN2 gene and
Deafness, Autosomal Dominant 20
PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
PMID 16773128 2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
rs104894544 in
FSCN2;ACTG1 gene and
Deafness, Autosomal Dominant 20
PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.
PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
PMID 16773128 2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.