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- source_evidence_literature type ECO_0000212 NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_assertion wasGeneratedBy ECO_0000203 NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_assertion wasDerivedFrom befree-20150227 NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_assertion SIO_000772 15389977 NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_assertion evidence source_evidence_literature NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.
- NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_assertion description "[We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP810916.RAj5uzO8OV8fJiX-cq0M_NXGFde-zXRy5eAoqgosrHBg8130_provenance.