Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion description "[Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion evidence source_evidence_curated NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion SIO_000772 10732802 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion wasDerivedFrom uniprot-20130724 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion wasGeneratedBy ECO_0000218 NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.