Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.G362S
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SUOX

NM_001032386.2:p.G362S

Associated Papers

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

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

Enemark JH

Journal of Inorganic Biochemistry, 2023

Molybdenum Cofactor Deficiency in Humans.

Johannes L et al.

Molecules (basel, Switzerland), 2022

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

Kaczmarek AT et al.

Journal of Inherited Metabolic Disease, 2022

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Sallevelt SCEH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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

Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency - a case report and literature review.

Pavel AM et al.

Hrb Open Research, 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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeI_
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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."