Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion description "[A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion evidence source_evidence_curated NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion SIO_000772 9621520 NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion wasDerivedFrom uniprot-2016 NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion wasGeneratedBy ECO_0000218 NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_provenance.