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（2021）
关键词
Alport syndrome,thin basement membrane nephropathy,hematuria,collagen IV,genetic renal disease,glomerular basement membrane,Gly substitutions
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