Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.
- 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.
- NP149656.RALIqYjoGNp3AGGk50JygRUWbXRDDHkgWcnD2sb49q9Lk130_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." NP149656.RALIqYjoGNp3AGGk50JygRUWbXRDDHkgWcnD2sb49q9Lk130_provenance.
- NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_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." NP230080.RAbkbpHXxpB5Uotwh4jaytkNHjTns0M4iig5VNbTRoMWA130_provenance.
- 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.
- NP230082.RAnL8eJVoycWBwfw2TsD6MvV3uKB8t0om3Jg76UmkuDy0130_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." NP230082.RAnL8eJVoycWBwfw2TsD6MvV3uKB8t0om3Jg76UmkuDy0130_provenance.