Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_assertion description "[We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_assertion evidence source_evidence_curated NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_assertion SIO_000772 8005589 NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_assertion wasDerivedFrom uniprot-2016 NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_assertion wasGeneratedBy ECO_0000218 NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8684.RAsN2OYf6cnScVQcquJ3F5FeREUZYuO5Ae_l_PDMTThSI130_provenance.