Associated Papers
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
Nakano T et al.
Journal of Medical Genetics, 2022
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Parry DA et al.
Genes & Development, 2020
33060134 (PubMed )
Supplement: supp_gad.340190.120_Supplemental_Table_S3.xlsx › Table_S3
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV et al.
American Journal of Human Genetics, 2018
Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis.
Bellelli R et al.
Molecular Cell, 2018
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