Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion description "[This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion evidence source_evidence_literature NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion SIO_000772 20852937 NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion wasDerivedFrom befree-2016 NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion wasGeneratedBy ECO_0000203 NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.
- befree-2016 importedOn "2016-02-19" NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.