Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion> ?p ?o ?g. }
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- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion type Assertion NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_head.
- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_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." NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_provenance.
- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion evidence source_evidence_literature NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_provenance.
- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion SIO_000772 16686649 NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_provenance.
- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion wasDerivedFrom befree-2016 NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_provenance.
- NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_assertion wasGeneratedBy ECO_0000203 NP549054.RAgZD4Onskn_o6sPZL1QRbKfa0sPslozcb5KiT5QSX5sM130_provenance.