Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.G126D
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MOCS2

NM_004531.5:p.G126D

Associated Papers

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

Critical appraisal of genotype assessment in molybdenum cofactor deficiency.

Hinderhofer K et al.

Journal of Inherited Metabolic Disease, 2017

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J et al.

Human Mutation, 2011

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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."