Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion> ?p ?o ?g. }
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- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion type Assertion NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_head.
- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion description "[Mutations in fibulin-4 (EFEMP2) and fibulin-5 (FBLN5) were described to be causative for autosomal recessive cutis laxa type 1 in a few families each.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_provenance.
- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion evidence source_evidence_literature NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_provenance.
- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion SIO_000772 19664000 NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_provenance.
- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion wasDerivedFrom befree-2016 NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_provenance.
- NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_assertion wasGeneratedBy ECO_0000203 NP756113.RAvleOEMjAEamyKXC8oN6EmFcAX8lV5Hy5MJ22xy6aCtw130_provenance.