Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion description "[Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion evidence source_evidence_curated NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion SIO_000772 9566422 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion wasDerivedFrom uniprot-2016 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_assertion wasGeneratedBy ECO_0000218 NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9724.RAju3bdQ9NbBC-DxX3eiALdqAKIt2je6nmWIWA6ESTXzg130_provenance.