Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_assertion description "[Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_assertion evidence source_evidence_curated NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_assertion SIO_000772 20842734 NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_assertion wasDerivedFrom ctd_human-20150221 NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_assertion wasGeneratedBy ECO_0000218 NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP10458.RAa16dDzRxLOFFemwoFyDx_X5TmaiDfMzKjDYWA8Ph_lg130_provenance.