Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_assertion description "[Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_assertion evidence source_evidence_literature NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_assertion SIO_000772 19500388 NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_assertion wasDerivedFrom gad-20130706 NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_assertion wasGeneratedBy ECO_0000203 NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.
- gad-20130706 importedOn "2013-07-06" NP48596.RA0n-mHOcuO60fmO6qq9roXxL4eyZE2HP_o3E_GdozMps130_provenance.