Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion description "[Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion evidence source_evidence_curated NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion SIO_000772 10679946 NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion wasDerivedFrom uniprot-20150221 NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_assertion wasGeneratedBy ECO_0000218 NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1100.RAcAlJ3nmGdS5fC6thrFwS9sFPf1R1D8c71bD_vr07Dw0130_provenance.