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Utilization of CentoMD® in Scientific Settings

Barbara Vona et al.
January 26, 2021

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse database - CentoMD® - is frequently encountered by academic consortia in need of such information. A recent example of this type of collaboration with the scientific community enabled the discovery of a new cause of inherited deafness. The findings were published in Human Genetics.