Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.G127R
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MOCS1

NM_001358530.2:p.G127R

Associated Papers

Radical S-Adenosylmethionine Enzymes in Human Health and Disease.

Landgraf BJ et al.

Annual Review of Biochemistry, 2016

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

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A.

Reiss J et al.

Human Genetics, 1998

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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."