Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion> ?p ?o ?g. }
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- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion type Assertion NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_head.
- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion description "[Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_provenance.
- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion evidence source_evidence_literature NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_provenance.
- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion SIO_000772 21932603 NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_provenance.
- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion wasDerivedFrom befree-20150227 NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_provenance.
- NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_assertion wasGeneratedBy ECO_0000203 NP433913.RAGkZTxlr8o7vwGwzJ6-cR9zyBNdf3h5igxlwHr1pxVTE130_provenance.