Varaico: Literature-Extracted Genetic Variants

Gene:MOCS3
Variant:p.A257T
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MOCS3

NM_014484.5:p.A257T

Associated Papers

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

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

Scelsa B et al.

Molecular Genetics & Genomic Medicine, 2019

Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome.

Neukranz Y et al.

Biochemistry, 2019

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM et al.

American Journal of Medical Genetics. Part A, 2017

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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."