Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion> ?p ?o ?g. }
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- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion type Assertion NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_head.
- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion description "[Glycogen storage disease type IIIa (GSD IIIa) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by a deficiency in the glycogen debranching enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_provenance.
- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion evidence source_evidence_literature NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_provenance.
- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion SIO_000772 16189622 NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_provenance.
- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion wasDerivedFrom befree-2016 NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_provenance.
- NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_assertion wasGeneratedBy ECO_0000203 NP515462.RAyU0U-n3v9eJT1EndJ4zgs7N1Qn1TtaBrFZvGoSskako130_provenance.