Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion description "[Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion evidence source_evidence_literature NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion SIO_000772 18297515 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion wasDerivedFrom befree-2016 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion wasGeneratedBy ECO_0000203 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- befree-2016 importedOn "2016-02-19" NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.