Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.R132W
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MOCS1

NM_001358530.2:p.R132W

Associated Papers

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

A Vietnamese human genetic variation database.

Le VS et al.

Human Mutation, 2019

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."