Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion> ?p ?o ?g. }
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- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion type Assertion NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_head.
- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion description "[Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_provenance.
- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion evidence source_evidence_literature NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_provenance.
- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion SIO_000772 12068375 NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_provenance.
- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion wasDerivedFrom befree-2016 NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_provenance.
- NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_assertion wasGeneratedBy ECO_0000203 NP358021.RA1IJw6hE0z8qh8UAkt--XSotGU5xkdes5Y3kx6qfUM4E130_provenance.