Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.L19F
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MOCS2

NM_004531.5:p.L19F

Associated Papers

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency.

Cho SK et al.

European Journal of Pediatrics, 2025

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 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."