Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion> ?p ?o ?g. }
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- NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_assertion type Assertion NP676914.RAA7-n0zDgqE02ZKpsIACuh3adSnm7qqNG4CdhuludtMw130_head.
- 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.