KEGG   VARIANT: 3978v1
Entry
3978v1                      Variant                                
Name
LIG1 mutation
Type
Loss of function
Gene
LIG1  DNA ligase 1 [KO:K10747]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 126391
Network
nt06504  Base excision repair
nt06509  DNA replication
Disease
H00094  Immunodeficiency associated with DNA repair defects
Reference
PMID:30395541
  Authors
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C
  Title
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
  Journal
J Clin Invest 128:5489-5504 (2018)
DOI:10.1172/JCI99629
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