Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_assertion description "[In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_assertion evidence source_evidence_literature NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_assertion SIO_000772 25182700 NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_assertion wasDerivedFrom befree-2016 NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_assertion wasGeneratedBy ECO_0000203 NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.
- befree-2016 importedOn "2016-02-19" NP1216302.RAJCvJiUYQoMgAfUw_e4mhOBs0Rue-1zPTRLklcUykh8w130_provenance.