Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion> ?p ?o ?g. }
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- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion type Assertion NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_head.
- 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.