Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_assertion description "[Here we investigated the histologic changes of cementum and alveolar bone in a pycnodysostosis patient, caused by novel compound heterozygous mutations in the CTSK gene (c.87 G>A p.W29X and c.848 A>G p.Y283C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_assertion evidence source_evidence_curated NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_assertion SIO_000772 25731711 NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_assertion wasDerivedFrom uniprot-2016 NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_assertion wasGeneratedBy ECO_0000218 NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8152.RAFGMCFv16gyvszKe7Und5es3_DtyZLZW5an8hgwMEXLY130_provenance.