Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion> ?p ?o ?g. }
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- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion type Assertion NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_head.
- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion description "[Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_provenance.
- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion evidence source_evidence_literature NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_provenance.
- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion SIO_000772 24018892 NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_provenance.
- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion wasDerivedFrom befree-2016 NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_provenance.
- NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_assertion wasGeneratedBy ECO_0000203 NP1108860.RATMS_SdhEwu3wP3-BTyKaGrorE-lle96KU0GjJmLjqGY130_provenance.