Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.Y434S
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FAM111B

NM_198947.4:p.Y434S

Associated Papers

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Vignard V et al.

Ebiomedicine, 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."