Varaico: Literature-Extracted Genetic Variants

Gene:IPO8
Variant:p.Q28*
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IPO8

NM_006390.4:p.Q28*

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

Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.

Pereira C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753023_rh1cjx.pdf
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