Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion> ?p ?o ?g. }
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- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion type Assertion NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_head.
- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_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." NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_provenance.
- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion evidence source_evidence_literature NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_provenance.
- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion SIO_000772 12840783 NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_provenance.
- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion wasDerivedFrom befree-20140225 NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_provenance.
- NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_assertion wasGeneratedBy ECO_0000203 NP783119.RA87CO1fhaG44VtVgzFhHqV2kXf9pI9b3zTv9sQApVdkY130_provenance.