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- source_evidence_literature type ECO_0000212 NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_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." NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_assertion evidence source_evidence_literature NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_assertion SIO_000772 18310267 NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_assertion wasDerivedFrom befree-20150227 NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_assertion wasGeneratedBy ECO_0000203 NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP783594.RAv5vq9GD1c7FIpy9NdLtWHUY_SmgZAUfVBMbxKnRUfkk130_provenance.