Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_assertion description "[Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_assertion evidence source_evidence_curated NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_assertion SIO_000772 17676042 NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_assertion wasDerivedFrom uniprot-2016 NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_assertion wasGeneratedBy ECO_0000218 NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5080.RAR4VA4_S-3q6K97Razg9gzDi8PF5DYkoN6BXB1Z1oB38130_provenance.