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- source_evidence_literature type ECO_0000212 NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_assertion description "[Mutations in the human alpha-sarcoglycan gene on chromosome 17q21.2 have been shown to cause a severe childhood autosomal recessive muscular dystrophy, a less severe limb girdle muscular dystrophy, exercise intolerance, or asymptomatic hyperCKemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_assertion evidence source_evidence_literature NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_assertion SIO_000772 14595658 NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_assertion wasDerivedFrom befree-20140225 NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_assertion wasGeneratedBy ECO_0000203 NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP603589.RASU2WVl6Gd6W748qXcy-rJ-UCCb6vGLbhkRmQeMWI-fk130_provenance.