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Home / CTGA Subject
CTGA Subject
614944.1.3
Country
Syria
HPO Terms
Congenital sensorineural hearing impairment
Sex
Female
Family History
Yes
Parental Consanguinity
No
Remarks
Sister of 614944.1.1
Variants
NM_173591.3:c.2773C>T
References
Barake R, Abou-Rizk S, Nemer G, Bassim M. The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family. Genet Test Mol Biomarkers. 2017 Jul;21(7):445-449.