Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.W409*
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SUOX

NM_001032386.2:p.W409*

Associated Papers

Next-Generation sequencing transforming clinical practice and precision medicine.

Yadav D et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Whole exome sequencing identified a homozygous novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency.

Zhang R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

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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."