Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.Q121_I122Splc
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ACTG1

NM_001614.5:p.Q121_I122Splc

Associated Papers

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M et al.

Human Molecular Genetics, 2009

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.

Rendtorff ND et al.

European Journal of Human Genetics : Ejhg, 2006

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

van Wijk E et al.

Journal of Medical Genetics, 2003

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