KEGG   VARIANT: 10714v1
Entry
10714v1                      Variant                               
Name
POLD3 mutation
Type
Loss of function
Gene
POLD3  DNA polymerase delta 3, accessory subunit [KO:K03504]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611223
Network
nt06502  Nucleotide excision repair
nt06504  Base excision repair
nt06506  Double-strand break repair
Disease
H00091  T-B+Severe combined immunodeficiency
Reference
PMID:37030525
  Authors
Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G, Megarbane A
  Title
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.
  Journal
Clin Immunol 251:109326 (2023)
DOI:10.1016/j.clim.2023.109326
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