Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.R317C
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MOCS1

NM_001358530.2:p.R317C

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

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Ferreira EA et al.

Genetics in Medicine Open, 2024

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Yoshimura A et al.

Neuropediatrics, 2019

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

Lubout CMA et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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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."