Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion> ?p ?o ?g. }
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- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion type Assertion NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_head.
- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_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." NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_provenance.
- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion evidence source_evidence_literature NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_provenance.
- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion SIO_000772 17387722 NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_provenance.
- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion wasDerivedFrom befree-20150227 NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_provenance.
- NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_assertion wasGeneratedBy ECO_0000203 NP929536.RAvKfefZrArfelQ1D1y4EOvMt_ZUvkLrMB_oIWxthlza4130_provenance.