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- source_evidence_literature type ECO_0000212 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion description "[We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion evidence source_evidence_literature NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion SIO_000772 20371544 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion wasDerivedFrom befree-2016 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_assertion wasGeneratedBy ECO_0000203 NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.
- befree-2016 importedOn "2016-02-19" NP804419.RAcSW9oedm1saaySQwaAXiEPP9Lqb-FD_zIVEqe6Dox6s130_provenance.