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Q47123721-68FD317A-2051-4568-82CB-9548CBEA2233
Q47123721-68FD317A-2051-4568-82CB-9548CBEA2233
BestRank
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http://www.wikidata.org/entity/statement/Q47123721-68FD317A-2051-4568-82CB-9548CBEA2233
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
Q47123721-68FD317A-2051-4568-82CB-9548CBEA2233
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47123721-68FD317A-2051-4568-82CB-9548CBEA2233
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wasDerivedFrom
b34564e752359a71d9c6e58d8d1fe6de278db8b0
P2860
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder