Article

Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of<i>COL4A5</i>variants

2024-06-05

Abstract excerpt

<h4>Introduction</h4> Our knowledge of X-linked Alport Syndrome [AS] comes mostly from selected cohorts with more severe disease. <h4>Methods</h4> We examined the phenotypic spectrum of X-linked AS in males and females with a genotype-based approach using data from the Geisinger MyCode DiscovEHR study, an unselected health system-based cohort with exome sequencing and electronic health records. Patients with COL4A...

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Literature Corpus work: fcebb88f-21e4-58bc-a06a-94380aa96c6b
DOI: 10.1101/2024.06.04.24308453

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