Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_assertion description "[Mutations within CLCN1, the gene encoding the major skeletal muscle chloride channel, cause either dominant Thomsen disease or recessive Becker-type myotonia, which are sometimes difficult to discriminate, because of reduced penetrance or lower clinical expressivity in females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_assertion evidence source_evidence_curated NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_assertion SIO_000772 8571958 NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_assertion wasDerivedFrom uniprot-2016 NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_assertion wasGeneratedBy ECO_0000218 NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8984.RAd64EIzErXPyv2Y5_D90rF_Zgbe00CLQvZIFxjjS5wi4130_provenance.