Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.V507_C508delFs
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SUOX

NM_001032386.2:p.V507_C508delFs

Associated Papers

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.

Zou D et al.

Brain : a Journal of Neurology, 2021

34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf

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

Isolated sulfite oxidase deficiency: a founder mutation.

Mhanni AA et al.

Cold Spring Harbor Molecular Case Studies, 2020

Isolated sulfite oxidase deficiency.

Claerhout H et al.

Journal of Inherited Metabolic Disease, 2018

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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."