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A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing.

Parizad AvariPei Chia EngMing HuRunzhi ChenNatalija PopovicConstantin PolychronakosDuncan SpaldingGuy A RutterNicholas S OliverFlorian Wernig
Published in: Journal of the Endocrine Society (2022)
. Experimental validation using cellular approaches may in future confirm pathomechanisms involved in this rare condition.
Keyphrases
  • current status
  • copy number
  • gene expression