Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion> ?p ?o ?g. }
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- NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_assertion type Assertion NP1290201.RAXCerjfWw5Vbkc-__QRmRGV2iiZoGkWDea0JNn3Qcy8Q130_head.
- 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.