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- source_evidence_literature type ECO_0000212 NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_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." NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_assertion evidence source_evidence_literature NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_assertion SIO_000772 14595658 NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_assertion wasDerivedFrom befree-2016 NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_assertion wasGeneratedBy ECO_0000203 NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.
- befree-2016 importedOn "2016-02-19" NP418997.RAUJx_ukN5iCcHNnAk2KcWLWXIW07FN4w2ytYT4KeKBLo130_provenance.