Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion> ?p ?o ?g. }
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- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion type Assertion NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_head.
- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion description "[A CTG repeat element normally resides in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene, but when expanded it is the genetic lesion of myotonic dystrophy type 1 (DM1), a hereditary neuromuscular disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_provenance.
- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion evidence source_evidence_literature NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_provenance.
- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion SIO_000772 23308382 NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_provenance.
- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion wasDerivedFrom befree-2016 NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_provenance.
- NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_assertion wasGeneratedBy ECO_0000203 NP1042858.RAbzxq7kAuLo060NfFHQD-hJztA10IAxZcByZu63aDoTo130_provenance.