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Article

Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Sept 2021

Gibson Joel, Fieldhouse Rachel, Chan Melanie M Y, Sadeghi-Alavijeh Omid, Burnett Leslie, Izzi Valerio, Persikov Anton V, Gale Daniel P, Storey Helen, Savige Judy

Abstract excerpt

BACKGROUND: The reported prevalence of Alport syndrome varies from one in 5000 to one in 53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3-COL4A5 variants in sequencing databases of populations without known kidney disease. METHODS: Predicted pathogenic variants were identified using filtering steps based on the ACMG/AMP criteria, which considered collagen IV α3-α5 position 1...

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Share to Autoantigens
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nephritis, Hereditary

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Identifiers

PMID: 34400539
DOI: 10.1681/ASN.2020071065
PMCID: PMC8729840

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