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Q34384562-95B2DFFD-86AB-4FA1-B384-2E8352EE6AC4
Q34384562-95B2DFFD-86AB-4FA1-B384-2E8352EE6AC4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34384562-95B2DFFD-86AB-4FA1-B384-2E8352EE6AC4
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
P2860
Q34384562-95B2DFFD-86AB-4FA1-B384-2E8352EE6AC4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34384562-95B2DFFD-86AB-4FA1-B384-2E8352EE6AC4
rank
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type
BestRank
Statement
wasDerivedFrom
44414905db3e0a1b82044095b292ac45f371f45a
P2860
3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.