Varaico: Literature-Extracted Genetic Variants

Gene:SBF1
Variant:p.H1488Y
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SBF1

NM_002972.4:p.H1488Y

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

40232843 (PubMed )
Supplement: jci-135-187323-s250.pdf
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