Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_assertion wasGeneratedBy ECO_0000218 NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_assertion wasDerivedFrom uniprot-20150221 NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_assertion SIO_000772 22232211 NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_assertion evidence source_evidence_curated NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.
- NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_assertion description "[Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP410.RAfikCKSObaojbS66bRtVl0NB7b25j0j4-zOI6q9nY6Dw130_provenance.