FANCA c.3624C>T (p.Ser1208=) is a hypomorphic splice variant associated with delayed onset of Fanconi anemia
FANCA c.3624C>T (p.Ser1208=) 是一种功能减弱的剪接变异体，与范可尼贫血症的延迟发病相关。
期刊:Blood Advances
影响因子:7.4
doi:10.1182/bloodadvances.2023011888
Ramanagouda Ramanagoudr-Bhojappa ,Rebecca Tryon ,Francis P Lach ,Frank X Donovan ,Rochelle Maxwell ,Allana Rosenberg ,Margaret L MacMillan ,John E Wagner ,Arleen D Auerbach ,Agata Smogorzewska ,Settara C Chandrasekharappa
