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- source_evidence_literature type ECO_0000212 NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion description "[Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion evidence source_evidence_literature NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion SIO_000772 15673802 NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion wasDerivedFrom befree-20140225 NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_assertion wasGeneratedBy ECO_0000203 NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP333340.RA1f3eJCz9l28b5ZKWuoYmxwY8_T-i1bTMnEYEqWtjzC0130_provenance.