Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion> ?p ?o ?g. }
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- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion type Assertion NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_head.
- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion wasGeneratedBy ECO_0000203 NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_provenance.
- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion wasDerivedFrom lhgdn-20090331 NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_provenance.
- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion SIO_000772 17923349 NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_provenance.
- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion evidence source_evidence_literature NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_provenance.
- NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_assertion description "[missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP128817.RAFQzFM_lJKB-_aXL_4sGOqNTBv8sHtkbAOBlF64iGIEI130_provenance.