Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.Q3*
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PHB2

NM_001144831.2:p.Q3*

Associated Papers

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J et al.

Human Genetics, 2003

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.

Ishibashi F et al.

Human Genetics, 2000

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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."