Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion description "[The Spanish cohort, the largest group of patients studied so far, shares phenotypic features with both LGMD1A and MFM/MYOT variants thus establishing a continuum of phenotypic manifestations characteristic of myotilinopathy, an emerging neuromuscular disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion evidence source_evidence_literature NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion SIO_000772 15947064 NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion wasDerivedFrom befree-2016 NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion wasGeneratedBy ECO_0000203 NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_provenance.