Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.T542P
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FAAP100

NM_025161.6:p.T542P

Associated Papers

Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.

Kuehl J et al.

The Journal of Clinical Investigation, 2025

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

Harrison BA et al.

The Journal of Clinical Investigation, 2025

Another Fanconi anemia gene joins the club.

Homan CC et al.

The Journal of Clinical Investigation, 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."