Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP8600.RAADysjmMVskZ4ULur4EirYr4tZyyyiROernKNYg1FOUs#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion description "[The c.319C > T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition/should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18054510 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.