QIN SUN to Phenotype
This is a "connection" page, showing publications QIN SUN has written about Phenotype.
Connection Strength
0.150
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468.
Score: 0.075
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A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance. Hum Mol Genet. 2020 08 03; 29(13):2171-2184.
Score: 0.020
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189.
Score: 0.017
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Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 08 30; 7:12642.
Score: 0.015
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Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8.
Score: 0.012
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Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
Score: 0.010