A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
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DOI: 10.1371/journal.pone.0191224
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40–50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date… read more here.
Keywords: cakut; interactor; homozygous missense; vwa2 ... See more keywords