Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion> ?p ?o ?g. }
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- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion type Assertion NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_head.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion description "[The existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that transcripts containing an expanded CUG repeat could play a role in the pathogenesis of HDL2, similar to the proposed pathogenic role of expanded CUG repeats in myotonic dystrophy type 1 (DM1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion evidence source_evidence_literature NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion SIO_000772 17387722 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion wasDerivedFrom befree-20140225 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.
- NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_assertion wasGeneratedBy ECO_0000203 NP911531.RAkMomHGk7OAn8eP_XsfsUwYBp4B8WclYNc0DxsskCALg130_provenance.