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Q47123721-37F8E32F-DA0D-4EB6-855E-A6ED61AAC1BA
Q47123721-37F8E32F-DA0D-4EB6-855E-A6ED61AAC1BA
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Statement
http://www.wikidata.org/entity/statement/Q47123721-37F8E32F-DA0D-4EB6-855E-A6ED61AAC1BA
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles.
P2860
Q47123721-37F8E32F-DA0D-4EB6-855E-A6ED61AAC1BA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47123721-37F8E32F-DA0D-4EB6-855E-A6ED61AAC1BA
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wasDerivedFrom
b34564e752359a71d9c6e58d8d1fe6de278db8b0
P2860
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.