PubMed · Kidney International· Thomas Robert·· 3 天前精选
医学研究：Systematic overestimation using in silico-driven curation in a population database caused reevaluation of the genetic prevalence of Alport Syndrome.
Systematic overestimation using in silico-driven curation in a population database caused reevaluation of the genetic prevalence of Alport Syndrome.
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原文摘录：INTRODUCTION: A landmark study by Gibson and coworkers in 2021 estimated that one in 106 individuals carry a predicted pathogenic COL4A3 or COL4A4 variant, suggesting autosomal dominant Alport syndrome is massively underdiagnosed. … These findings argu
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来源：PubMed · Kidney International · pubmed.ncbi.nlm.nih.gov