Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_assertion description "[DNA analysis of SPTB in the HS subjects with decreased SPTB mRNA levels revealed the presence of five previously undescribed mutations: R1756X, 781delT and IVS22nt-4G>A, 1502insA and IVS20nt-2A>G.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_assertion evidence source_evidence_curated NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_assertion SIO_000772 19538529 NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_assertion wasDerivedFrom ctd_human-20150221 NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_assertion wasGeneratedBy ECO_0000218 NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP31134.RAuadwXDOavNxV5dYAwoyo_kL3WcrMGhrUC7W5IgBqvY0130_provenance.