Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_assertion description "[Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromosome 17p11.2-12 duplication, and one had X-linked disease (CMTX) due to a mutation in the GJB1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_assertion evidence source_evidence_literature NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_assertion SIO_000772 14607795 NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_assertion wasDerivedFrom befree-2016 NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_assertion wasGeneratedBy ECO_0000203 NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.
- befree-2016 importedOn "2016-02-19" NP419948.RAIwKYg0G5jVMAvlAToN9qMmZ96LDLuJrPqFCNuP7xDvk130_provenance.