GeneticsBloodPeer-reviewed
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Sangmoon Lee, Chang Hoon Shin, Jawon Lee…·Murim Choi
The paper identifies somatic uniparental disomy in EFL1 as a mechanism that mitigates severe SDS by allowing milder variants to dominate in bone marrow cells.