Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_assertion description "[Our findings demonstrate that missense mutations in MUSK can result in a severe form of CMS and indicate that the inability of MuSK mutants to interact with Dok-7, but not with Lrp4 or Tid1, is a major determinant of the pathogenesis of the CMS caused by MUSK mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_assertion evidence source_evidence_literature NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_assertion SIO_000772 20371544 NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_assertion wasDerivedFrom befree-2016 NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_assertion wasGeneratedBy ECO_0000203 NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.
- befree-2016 importedOn "2016-02-19" NP804422.RAZa10F7119f9TY7S3jv2tfW9Sk8Mc2DcPkNx8zbap3Rg130_provenance.