Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion description "[Protein expression studies in nine cases suggested a correlation between specific mutations, RyR1 protein levels and resulting phenotype: in particular, whilst patients with dominant or recessive mutations associated with typical CCD phenotypes appeared to have normal RyR1 expression, individuals with more generalized weakness, multi-minicores and external ophthalmoplegia had a pronounced depletion of the RyR1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion evidence source_evidence_literature NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion SIO_000772 17483490 NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion wasDerivedFrom befree-20150227 NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion wasGeneratedBy ECO_0000203 NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_provenance.