Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion description "[Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion evidence source_evidence_literature NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion SIO_000772 26178373 NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion wasDerivedFrom befree-2016 NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion wasGeneratedBy ECO_0000203 NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_provenance.