Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Nakano T, Sasahara Y, Kikuchi A, Moriya K, Niizuma H, Niihori T, Shirota M, Funayama R, Nakayama K, Aoki Y, Kure S
J Med Genet. 2022 May 9. pii: jmedgenet-2021-108300. doi: 10.1136/jmedgenet-2021-108300. PubMed Article

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