Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.E30K
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MOCS2

NM_004531.5:p.E30K

Associated Papers

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Kinsinger M et al.

Bmc Medical Genomics, 2024

Dual role of the molybdenum cofactor biosynthesis protein MOCS3 in tRNA thiolation and molybdenum cofactor biosynthesis in humans.

Chowdhury MM et al.

The Journal of Biological Chemistry, 2012

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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."