Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_assertion description "[Using molecular inversion probes for targeted sequencing to screen PIEZO2, we found mutations in 24/29 (82%) DA5-affected families and one of two MWS-affected families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_assertion evidence source_evidence_curated NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_assertion SIO_000772 24726473 NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_assertion wasDerivedFrom uniprot-2016 NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_assertion wasGeneratedBy ECO_0000218 NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7864.RAHEHWc_6BLCGettxN7tmNoguW3A6kCZ8RMtCF9zO2MMs130_provenance.