Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion> ?p ?o ?g. }
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- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion type Assertion NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_head.
- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion description "[Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD-AD) is a disorder characterized clinically by humeropelvic weakness, contractures, and cardiomyopathy, and genetically by mutations in the lamin A/C gene on 1q21.2-q21.3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_provenance.
- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion evidence source_evidence_literature NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_provenance.
- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion SIO_000772 10908904 NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_provenance.
- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion wasDerivedFrom befree-20140225 NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_provenance.
- NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_assertion wasGeneratedBy ECO_0000203 NP677408.RAI6aiALIV7jjWMcjpHYOJYc5rZeFC3NIkG7S9N9wnsFg130_provenance.