Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion> ?p ?o ?g. }
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- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion type Assertion NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_head.
- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion description "[We describe a heterozygous dominant mutation (c.1352G-->A/p.G451E) in POLG2, the gene encoding the p55 accessory subunit of pol gamma , that causes progressive external ophthalmoplegia with multiple mtDNA deletions and cytochrome c oxidase (COX)-deficient muscle fibers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_provenance.
- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion evidence source_evidence_literature NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_provenance.
- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion SIO_000772 16685652 NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_provenance.
- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion wasDerivedFrom befree-20140225 NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_provenance.
- NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_assertion wasGeneratedBy ECO_0000203 NP598768.RAvxi2mKt9NBb-cDwo6tft3sg1_CWyo3YMF_J_m-WOHYs130_provenance.