Varaico: Literature-Extracted Genetic Variants

Gene:BRF2
Variant:p.R127*
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BRF2

NM_018310.4:p.R127*

Associated Papers

Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders.

Yoon S et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

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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."