We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the gene. The -related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of status may allow for avoidance of invasive testing.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721PMC
http://dx.doi.org/10.1002/ccr3.7502DOI Listing

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