Varaico: Literature-Extracted Genetic Variants

Gene:KMO
Variant:p.T234I
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KMO

NM_003679.5:p.T234I

Associated Papers

The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.

Geng C et al.

Journal of Clinical Neurology (seoul, Korea), 2025

40635539 (PubMed )
Supplement: jcn-21-340-s001.pdf

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result
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