Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.C84_Q85insFs
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MOCS1

NM_001358530.2:p.C84_Q85insFs

Associated Papers

Molybdenum Cofactor Deficiency in Humans.

Johannes L et al.

Molecules (basel, Switzerland), 2022

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."