Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_assertion description "[We found suggestive linkage of the BFNC phenotype to the 20q13-EBN1 locus (lod score, 2.03) and an intronic mutation IVS14-6 C>A in KCNQ2 segregating with the trait in all affected members, but absent in 100 unrelated control subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_assertion evidence source_evidence_literature NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_assertion SIO_000772 16686649 NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_assertion wasDerivedFrom befree-2016 NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_assertion wasGeneratedBy ECO_0000203 NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.
- befree-2016 importedOn "2016-02-19" NP549055.RATm5UAr-sfUap7JnP24bQ3DOoE03_vPqKMcOl-n5Afe0130_provenance.