Varaico: Literature-Extracted Genetic Variants

Gene:MOCS2
Variant:p.G84_K85insFs
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MOCS2

NM_004531.5:p.G84_K85insFs

Associated Papers

The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.

Arican P et al.

Pediatric Neurology, 2019

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

Reiss J et al.

Human Mutation, 2003

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

Reiss J et al.

American Journal of Human Genetics, 1999

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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."