Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_assertion description "[FDFM is likely caused by gain-of-function mutations in different domains of ADCY5-the first definitive link between adenylyl cyclase mutation and human disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_assertion evidence source_evidence_curated NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_assertion SIO_000772 24700542 NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_assertion wasDerivedFrom uniprot-2016 NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_assertion wasGeneratedBy ECO_0000218 NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7849.RAXc5mg4iqHMwhWCg-82S-gxx9rwLILawek4YRrUb1JoE130_provenance.