Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion> ?p ?o ?g. }
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- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion type Assertion NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_head.
- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion description "[Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_provenance.
- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion evidence source_evidence_curated NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_provenance.
- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion SIO_000772 12189163 NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_provenance.
- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion wasDerivedFrom ctd_human-20150221 NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_provenance.
- NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_assertion wasGeneratedBy ECO_0000218 NP13553.RAt4Bx0TzGbJrja3dCc7aoFwhmvwVtol6hPqABGKI3kMY130_provenance.