A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing.
Parizad AvariPei Chia EngMing HuRunzhi ChenNatalija PopovicConstantin PolychronakosDuncan SpaldingGuy A RutterNicholas S OliverFlorian WernigPublished in: Journal of the Endocrine Society (2022)
. Experimental validation using cellular approaches may in future confirm pathomechanisms involved in this rare condition.