Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion> ?p ?o ?g. }
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- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion type Assertion NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_head.
- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion description "[PMM2-CDG (formerly known as CDG Ia) a deficiency in phosphomannomutase, is the most frequent congenital disorder of glycosylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_provenance.
- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion evidence source_evidence_literature NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_provenance.
- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion SIO_000772 25497157 NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_provenance.
- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion wasDerivedFrom befree-2016 NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_provenance.
- NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_assertion wasGeneratedBy ECO_0000203 NP1246998.RAXNZfBYSTSwycnAKFZEW5gizLXOu6Ky1b4tJNMcA5YvU130_provenance.