Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_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." NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_assertion evidence source_evidence_literature NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_assertion SIO_000772 10679946 NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_assertion wasDerivedFrom befree-2016 NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_assertion wasGeneratedBy ECO_0000203 NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.
- befree-2016 importedOn "2016-02-19" NP275504.RAlY6PXKsxhMPboaEIh26NS65O8Abq3tN84rmX6Ghw5v4130_provenance.