Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_assertion description "[Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_assertion evidence source_evidence_curated NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_assertion SIO_000772 21419380 NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_assertion wasDerivedFrom uniprot-2016 NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_assertion wasGeneratedBy ECO_0000218 NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6583.RAehYeOcZydxslkRVLPCCn7IB4YqB-42QcpP___-CrWsk130_provenance.