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Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

UrologyUrinary TractGenetic DisorderGeneticsRenal PathologyCongenital AnomaliesRab-gtpase-activating ProteinDisease Gene IdentificationKidney Tubule RemodelingMedicineNephrologyKidney ResearchVariant Interpretation