Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_assertion description "[A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_assertion evidence source_evidence_curated NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_assertion SIO_000772 9600239 NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_assertion wasDerivedFrom uniprot-20130724 NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_assertion wasGeneratedBy ECO_0000218 NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP384.RAY9dqq9m39ZkPGyYyqu_d6jL9VUY9VeHB6eaOj_lwoCc130_provenance.