Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion> ?p ?o ?g. }
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- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion type Assertion NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_head.
- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion description "[Methylmalonic aciduria (MMA) is an autosomal recessive inborn error of metabolism that results from functional defects in methylmalonyl CoA mutase (MCM), a nuclear-encoded, mitochondrial enzyme that uses the vitamin B12 derivative, adenosylcobalamin (AdoCbl) as a cofactor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_provenance.
- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion evidence source_evidence_literature NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_provenance.
- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion SIO_000772 9554742 NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_provenance.
- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion wasDerivedFrom befree-2016 NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_provenance.
- NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_assertion wasGeneratedBy ECO_0000203 NP1393530.RAyAf-grucESjmnryHIdJDmtnYS2zyMMXuDQV3grO63e8130_provenance.