Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_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." NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion evidence source_evidence_curated NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion SIO_000772 10679946 NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion wasDerivedFrom uniprot-2016 NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_assertion wasGeneratedBy ECO_0000218 NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP648.RAz6Bzw0UvN6xY_s0pS3VnqyttaRF7Lhu8Ryd22ZK4EoI130_provenance.