Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.Q127*
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TAB2

NM_001292034.3:p.Q127*

Associated Papers

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.

Xu W et al.

Human Molecular Genetics, 2023

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.

Hanson J et al.

Clinical Genetics, 2022

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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."