Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_assertion description "[Upon sequencing the ceramide kinase-like (CERKL) gene, which is mutated in the original RP26 family, we identified a C>A transversion in exon 2 (c.316C>A) that substitutes an arginine residue with a serine (p.R106S) in the conserved nuclear localization signal sequence (KLKRR) of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_assertion evidence source_evidence_curated NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_assertion SIO_000772 18978954 NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_assertion wasDerivedFrom uniprot-2016 NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_assertion wasGeneratedBy ECO_0000218 NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5560.RAGIfXT2m1Fg__dznicSke-B7Oq8WVJ7oIbWURqUlIHSQ130_provenance.