Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion description "[The proband's mother and aunt, also manifesting with PXE-like skin changes, were heterozygous carriers of a missense mutation (p.V255M) in GGCX and a null mutation (p.R1141X) in the ABCC6 gene, suggesting digenic nature of their skin findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion evidence source_evidence_literature NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion SIO_000772 18800149 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion wasDerivedFrom befree-20140225 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_assertion wasGeneratedBy ECO_0000203 NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP858162.RA78TS8Bmojq2j67pFZATkJ4qMoibbhmh-1RvhQQy3TwM130_provenance.