Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.G126Splc
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MOCS2

NM_004531.5:p.G126Splc

Associated Papers

The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.

Abe Y et al.

Molecular Genetics and Metabolism Reports, 2021

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Scelsa B et al.

Molecular Genetics & Genomic Medicine, 2019

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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."