Varaico: Literature-Extracted Genetic Variants

Gene:SUOX
Variant:p.P370H
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SUOX

NM_001032386.2:p.P370H

Associated Papers

Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency.

Seidahmed MZ et al.

American Journal of Medical Genetics. Part A, 2005

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients.

Johnson JL et al.

Human Mutation, 2002

Isolated sulfite oxidase deficiency: review of two cases in one family.

Edwards MC et al.

Ophthalmology, 1999

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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."