Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.R73*
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METAP2

NM_006838.4:p.R73*

Associated Papers

High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.

de Oliveira-Junior EB et al.

Scandinavian Journal of Immunology, 2012

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

Gérard B et al.

Human Mutation, 2001

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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."