Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion> ?p ?o ?g. }
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- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion type Assertion NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_head.
- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion description "[Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_provenance.
- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion evidence source_evidence_literature NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_provenance.
- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion SIO_000772 25476234 NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_provenance.
- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion wasDerivedFrom befree-2016 NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_provenance.
- NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_assertion wasGeneratedBy ECO_0000203 NP1244934.RA8Wg18CqjT4KI9qzB0yeZR75l67cIbJAPDbvkjDswXa4130_provenance.