Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion> ?p ?o ?g. }
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- NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_assertion type Assertion NP9775.RAKKYyV3ZoMFuPmDGvgUVjoE8y_5owPLAm1hso_PJ4TX4130_head.
- 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.