Molecular BiologyBloodPeer-reviewed
Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants
Moonjung Jung, Ramanagouda Ramanagoudr‐Bhojappa, Sylvie van Twest…·Settara C. Chandrasekharappa
The paper correlates clinical severity in Fanconi anemia with residual function of FANCB missense variants through biochemical and cell-based assays.
37 citations