Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion> ?p ?o ?g. }
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- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion type Assertion NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_head.
- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_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." NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_provenance.
- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion evidence source_evidence_literature NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_provenance.
- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion SIO_000772 17923349 NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_provenance.
- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion wasDerivedFrom lhgdn-20090331 NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_provenance.
- NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_assertion wasGeneratedBy ECO_0000203 NP230081.RARbzi8m9zuKBL9GkFRjnH0B9hZRgDqJnQEsXxZAL_2pY130_provenance.