Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.K379R
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SUOX

NM_001032386.2:p.K379R

Associated Papers

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

Enemark JH

Journal of Inorganic Biochemistry, 2023

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

Kaczmarek AT et al.

Journal of Inherited Metabolic Disease, 2022

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

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

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Bender D et al.

Human Molecular Genetics, 2019

Isolated sulfite oxidase deficiency.

Claerhout H et al.

Journal of Inherited Metabolic Disease, 2018

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.

Sass JO et al.

Brain & Development, 2010

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