Varaico: Literature-Extracted Genetic Variants

Gene:IPO8
Variant:p.P513fs
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IPO8

NM_006390.4:p.P513fs

Associated Papers

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

Ziegler A et al.

American Journal of Human Genetics, 2021

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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."