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Home / CTGA Subject
CTGA Subject
600974.1.2
Country
Tunisia
HPO Terms
Hearing impairment
Sex
Unknown
Variants
NM_138691.2:c.100C>T
References
Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S. High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects. Genet Test Mol Biomarkers. 2010 Jun;14(3):307-11.