Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_assertion description "[We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_assertion evidence source_evidence_curated NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_assertion SIO_000772 11086027 NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_assertion wasDerivedFrom uniprot-2016 NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_assertion wasGeneratedBy ECO_0000218 NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1127.RALptIKDZKC6WhRfvm1erTR4HclNL-alTB_QVEuZml7gs130_provenance.