Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.S442fs
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MOCS1

NM_001358530.2:p.S442fs

Associated Papers

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.

Fu CY et al.

The Journal of Clinical Investigation, 2025

41178722 (PubMed )
Supplement: jci-135-181299-s330.xlsx › Suppl._Fig._5D

Molybdenum Cofactor Deficiency in Humans.

Johannes L et al.

Molecules (basel, Switzerland), 2022

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

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Misko AL et al.

Neurology. Genetics, 2020

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Mayr SJ et al.

Journal of Inherited Metabolic Disease, 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."