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1
Q47800870-CAC41BD0-CDDC-4BD9-A87B-75507F708472
Q47800870-CAC41BD0-CDDC-4BD9-A87B-75507F708472
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47800870-CAC41BD0-CDDC-4BD9-A87B-75507F708472
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
P2860
Q47800870-CAC41BD0-CDDC-4BD9-A87B-75507F708472
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47800870-CAC41BD0-CDDC-4BD9-A87B-75507F708472
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
758669a72581af4977b24ea84df10044532db473
P2860
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.