Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion> ?p ?o ?g. }
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- NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_assertion type Assertion NP498684.RAiEn-zv_Rb4cbIv9CWW6MMaGdYhB0unWAAC6MwDzm8YQ130_head.
- 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.