Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion> ?p ?o ?g. }
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- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion type Assertion NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_head.
- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion wasGeneratedBy ECO_0000218 NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_provenance.
- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion wasDerivedFrom uniprot-2016 NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_provenance.
- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion SIO_000772 15563506 NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_provenance.
- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion evidence source_evidence_curated NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_provenance.
- NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_assertion description "[Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3762.RAE01DyGhvf5fpwUqWh0WAwCUF0IEMkr9jn3KmLgUetmA130_provenance.