Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion> ?p ?o ?g. }
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- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion type Assertion NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_head.
- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_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." NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_provenance.
- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion evidence source_evidence_literature NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_provenance.
- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion SIO_000772 12189163 NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_provenance.
- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion wasDerivedFrom befree-2016 NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_provenance.
- NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_assertion wasGeneratedBy ECO_0000203 NP365168.RAf-Z5De4RSVeFinvmzSL6t74rx33asK0RRQgiclTe8Ls130_provenance.