Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.R529*
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SUOX

NM_001032386.2:p.R529*

Associated Papers

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.

Du P et al.

Molecular Genetics & Genomic Medicine, 2021

Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.

Nejabat M et al.

Frontiers in Pediatrics, 2021

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."