Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.I82F
Back to variants list

MOCS2

NM_176806.4:p.I82F

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

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.

Schwahn BC et al.

Journal of Inherited Metabolic Disease, 2024

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."