Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion> ?p ?o ?g. }
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- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion type Assertion NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_head.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_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." NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion evidence source_evidence_literature NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion SIO_000772 17387722 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion wasDerivedFrom befree-2016 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.
- NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_assertion wasGeneratedBy ECO_0000203 NP601067.RA03BaCEtgs5taNSlmsqST-tr0g0-lox3bJdb-TsyFXps130_provenance.