Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_assertion description "[The c.319C > T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition/should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_assertion evidence source_evidence_literature NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_assertion SIO_000772 18054510 NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_assertion wasDerivedFrom lhgdn-20090331 NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_assertion wasGeneratedBy ECO_0000203 NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP198172.RAQYpaUl3JwNCABip4itPgUX7SbaJP_j_KbPHQm4x7iWM130_provenance.