Varaico: Literature-Extracted Genetic Variants

Gene:FOXE3
Variant:p.E236fs
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FOXE3

NM_012186.3:p.E236fs

Associated Papers

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

Reis LM et al.

Human Molecular Genetics, 2021

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

Kuang SQ et al.

The Journal of Clinical Investigation, 2016

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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."