1. Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient
    Dongfeng Li et al, 2023, Frontiers in Genetics CrossRef
  2. Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling
    Kevin Perge et al, 2024, European Journal of Endocrinology CrossRef