Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion> ?p ?o ?g. }
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- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion type Assertion NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_head.
- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion description "[Methionine adenosyltransferase I/III (MAT I/III) deficiency, caused by mutations in the MAT1A gene, is an inherited metabolic disorder characterized by persistent hypermethioninemia, usually detected by newborn mass screening.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_provenance.
- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion evidence source_evidence_literature NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_provenance.
- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion SIO_000772 22951388 NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_provenance.
- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion wasDerivedFrom befree-20150227 NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_provenance.
- NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_assertion wasGeneratedBy ECO_0000203 NP546450.RAcXeTHnrbhHTouod5TyE_VyiSYJXAgv_qgepU-qEoC8A130_provenance.