Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in the Chinese Population and Its Implications for Clinical Practice
The α3α4α5 chain of type IV collagen, encoded by the COL4A3, COL4A4, and COL4A5 genes, is critical for the structural integrity and function of the glomerular basement membrane as well as ocular and auditory structures. This study estimated the prevalence of pathogenic variants of these three genes in the general Chinese population.



