Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion> ?p ?o ?g. }
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- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion type Assertion NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_head.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion description "[A missense mutation in fibulin-5, encoding a widely expressed constituent of the extracellular matrix that has an essential role in elastic fibre assembly and has been shown to cause cutis laxa, was detected as the only novel non-synonymous sequence variant within the disease interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion evidence source_evidence_literature NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion SIO_000772 21576112 NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion wasDerivedFrom befree-2016 NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.
- NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_assertion wasGeneratedBy ECO_0000203 NP894609.RAu4dtz3_r8bYJum1zNX_2BaXtneK5i0Sb_BWyGikvTkk130_provenance.