Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- befree-2016 importedOn "2016-02-19" NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_assertion wasGeneratedBy ECO_0000203 NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_assertion wasDerivedFrom befree-2016 NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_assertion SIO_000772 18310267 NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_assertion evidence source_evidence_literature NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.
- NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_assertion description "[Our case provides clear evidence that loss-of-function alleles in both alleles of both CLCNKA and CLCNKB results in a phenotype indistinguishable from that of mutations in BSND (type IV BS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP658083.RAvJcNx5ZBOjTotGQ6iPH4Q2zVcg4V_rK9SnoADqjAhDc130_provenance.