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- source_evidence_literature type ECO_0000212 NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP853004.RAdg0Z2BhhBxUK-6OOZzCFBnenXcn80pAiT-XamusRrnQ130_provenance.