Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_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." NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_assertion evidence source_evidence_literature NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_assertion SIO_000772 17483490 NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_assertion wasDerivedFrom befree-2016 NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_assertion wasGeneratedBy ECO_0000203 NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.
- befree-2016 importedOn "2016-02-19" NP608537.RAlMB2KVcgZRmnrXt6_U-dWGzE0Khlc2gtOlW_MKlR9Tw130_provenance.