Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.R459Q
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SUOX

NM_001032386.2:p.R459Q

Associated Papers

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

Machine learning-based identification and characterization of 15 novel pathogenic SUOX missense mutations.

Kaczmarek AT et al.

Molecular Genetics and Metabolism, 0

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