Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.Q85*
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MOCS1

NM_001358530.2:p.Q85*

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.

Seliem ZS et al.

African Health Sciences, 2022

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Zaki MS et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

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."