Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.L294F
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PHB2

NM_001144831.2:p.L294F

Associated Papers

Effects of Long-Term In Vitro Expansion on Genetic Stability and Tumor Formation Capacity of Stem Cells.

Nam H et al.

Stem Cell Reviews and Reports, 2022

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

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina.

Barese C et al.

Journal of Pediatric Hematology/oncology, 2004

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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."