Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.R366C
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SUOX

NM_001032386.2:p.R366C

Associated Papers

A Novel Variant in the SUOX Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency.

Rizzi S et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

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

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

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