Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.G588R
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MOCS1

NM_001358530.2:p.G588R

Associated Papers

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

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

Reiss J et al.

Human Mutation, 2011

Prevalence, Clinic-Etiological Spectrum and Outcome of Pediatric Metabolic Epilepsy - A Single Centre Experience.

Cornelius LP et al.

Annals of Indian Academy of Neurology, 0

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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."