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- source_evidence_literature type ECO_0000212 NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_assertion description "[Starch gel electrophoretic analysis of fibroblasts from 15 patients with late onset glycogen storage disease type II (GSDII) failed to reveal either homozygotes or heterozygotes for the GAA*2 allele (GAA2-2 or GAA2-0) providing evidence that neither of these genotypes lead to late onset GSDII despite the impaired activity of the enzyme towards glycogen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_assertion evidence source_evidence_literature NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_assertion SIO_000772 2688539 NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_assertion wasDerivedFrom befree-2016 NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_assertion wasGeneratedBy ECO_0000203 NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.
- befree-2016 importedOn "2016-02-19" NP1296124.RAYsqTt7kqBcK62EYWFICX7MzM22e7gt8J-ai-_S1Gtqk130_provenance.