Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion> ?p ?o ?g. }
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- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion type Assertion NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_head.
- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion description "[An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion evidence source_evidence_literature NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion SIO_000772 7726160 NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion wasDerivedFrom befree-20150227 NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_assertion wasGeneratedBy ECO_0000203 NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.