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Otosclerosis is a common conductive hearing loss resulting from abnormal bone metabolism. The c.788C&gt;T variant in the transforming growth factor-beta 1 gene is associated with otosclerosis in all studied populations, except the Indian population. In this study, we predicted the functional effects of reported variants in transforming growth factor-beta 1 and analyzed the c.788C&gt;T variant in a case-control cohort from India and in the genomes present in public databases.

Case–Control Genotyping of the c.788C>T Variant of Transforming Growth Factor-Beta 1 Gene in Otosclerosis in the South Indian Population