Purpose: Fanconi anemia is a genetically heterogeneous chromosomal breakage disorder exhibiting a high degree of clinical variability. Clinical diagnoses are confirmed by testing patient cells for ...
Figure 1: FANCB is a member of the core complex required for monoubiquitination of FANCD2. Figure 2: Nuclear localization of FAAP95 depends on FANCA. Figure 3: Evidence of a genetic defect in FAAP95 ...
A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...