Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.H143N
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SUOX

NM_001032386.2:p.H143N

Associated Papers

Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors.

Enemark JH

Journal of Inorganic Biochemistry, 2023

Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.

Zhao J et al.

Frontiers in Genetics, 2021

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Misko AL et al.

Neurology. Genetics, 2020

Oxygen and nitrite reduction by heme-deficient sulphite oxidase in a patient with mild sulphite oxidase deficiency.

Bender D et al.

Journal of Inherited Metabolic Disease, 2020

Stable clinical course in three siblings with late-onset isolated sulfite oxidase deficiency: a case series and literature review.

Tian M et al.

Bmc Pediatrics, 2019

Isolated sulfite oxidase deficiency.

Claerhout H et al.

Journal of Inherited Metabolic Disease, 2018

Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.

Del Rizzo M et al.

Molecular Genetics and Metabolism, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."