Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.E36*
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RAX

NM_013435.3:p.E36*

Associated Papers

Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review.

El-Nahry YHA et al.

Case Reports in Perinatal Medicine, 2024

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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."