Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.G324R
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MOCS1

NM_001358530.2:p.G324R

Associated Papers

Genetic screening in a Brazilian cohort with inborn errors of immunity.

Ferreira CS et al.

Bmc Genomic Data, 2023

37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants

Molybdenum cofactor deficiency: A natural history.

Spiegel R et al.

Journal of Inherited Metabolic Disease, 2022

Radical S-Adenosylmethionine Enzymes in Human Health and Disease.

Landgraf BJ et al.

Annual Review of Biochemistry, 2016

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

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

Reiss J et al.

Human Mutation, 2011

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.

Reiss J et al.

Human Mutation, 2003

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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."