Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion> ?p ?o ?g. }
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- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion type Assertion NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_head.
- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion description "[Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_provenance.
- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion evidence source_evidence_literature NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_provenance.
- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion SIO_000772 21989719 NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_provenance.
- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion wasDerivedFrom befree-20140225 NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_provenance.
- NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_assertion wasGeneratedBy ECO_0000203 NP454040.RAo-8vdPsmK_1oGhMwoGsTwmLO-sfm5AwEvMZEQ7cqVCo130_provenance.