Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP630517.RAYEV4LuvF5JHlsSF29_k0dhSpdrbWd7nx0ddqP-XqHhQ#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
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- assertion SIO_000772 11973334 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.