Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion> ?p ?o ?g. }
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- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion type Assertion NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_head.
- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion description "[Mutations in the G6PC gene, located on chromosome 17q21, result in glycogen storage disease type Ia (GSD-Ia), an autosomal recessive metabolic disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_provenance.
- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion evidence source_evidence_literature NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_provenance.
- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion SIO_000772 18449899 NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_provenance.
- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion wasDerivedFrom befree-20150227 NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_provenance.
- NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_assertion wasGeneratedBy ECO_0000203 NP415309.RAEX7prsAh6AYy3LK7JY3KDcYJ3ve6zmwgznnZYW5e6bI130_provenance.