Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion> ?p ?o ?g. }
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- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion type Assertion NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_head.
- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_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." NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_provenance.
- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion evidence source_evidence_literature NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_provenance.
- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion SIO_000772 17923349 NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_provenance.
- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion wasDerivedFrom lhgdn-20090331 NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_provenance.
- NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_assertion wasGeneratedBy ECO_0000203 NP153556.RAiGAuPJ1-yu_2MCeLKlHP7Wpaqds-lhvUyrDv-Fi1wp4130_provenance.