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Article

The Phenotypic Spectrum of COL4A3 Heterozygotes

25 Jul 2023

Abstract excerpt

Introduction The penetrance and phenotypic spectrum of autosomal dominant Alport Syndrome (ADAS), affecting 1 in 106, remains understudied. Methods Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we identified 403 participants who were heterozygous for likely pathogenic COL4A3 variants. Phenotypic data was...

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PMID: 37849993
DOI: 10.1016/j.ekir.2023.07.010

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