Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_assertion description "[Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_assertion evidence source_evidence_curated NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_assertion SIO_000772 25525168 NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_assertion wasDerivedFrom uniprot-2016 NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_assertion wasGeneratedBy ECO_0000218 NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8099.RAQk0PGpneQCOJSWe3Nf0b6ZCPxZTE_jV9srGsHW7IQAc130_provenance.