Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_assertion description "[Our results demonstrate that SLS is caused by a strikingly heterogeneous group of mutations in the FALDH gene and provide a framework for understanding the genetic basis of SLS and the development of DNA-based diagnostic tests.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_assertion evidence source_evidence_curated NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_assertion SIO_000772 10577908 NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_assertion wasDerivedFrom uniprot-20130724 NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_assertion wasGeneratedBy ECO_0000218 NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP307.RAHxU3F9vwmRdbTCe-lNH1G9X6_4ro_KZfkBX6IoGpyew130_provenance.