Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion type Assertion NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_head.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion description "[Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_provenance.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion evidence source_evidence_literature NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_provenance.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion SIO_000772 12840783 NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_provenance.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion wasDerivedFrom befree-20140225 NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_provenance.
- NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_assertion wasGeneratedBy ECO_0000203 NP593177.RAXHa3CrI2-FncROcWx07AVox8sJwQnP4AXHJBxWO4fqU130_provenance.