Varaico: Literature-Extracted Genetic Variants

Gene:METAP2
Variant:p.M1V
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METAP2

NM_006838.4:p.M1V

Associated Papers

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

de Oliveira-Junior EB et al.

Pediatric Blood & Cancer, 2015

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.

Merling RK et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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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."