FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia.
Ramanagoudr-Bhojappa R, Tryon R, Lach FP, Donovan FX, Maxwell R, Rosenberg A, MacMillan ML, Wagner JE, Auerbach AD, Smogorzewska A, et al. Blood Adv. 2024 Feb 27; 8(4):899-908.