VARIANT: 7374v1
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Entry
7374v1 Variant
Name
UNG mutation
Type
Loss of function
Gene
UNG
uracil DNA glycosylase [KO:
K03648
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
191525
Network
nt06504
Base excision repair
Disease
H00086
Immunodeficiency with hyper-IgM
Reference
PMID:
15967827
Authors
Kavli B, Andersen S, Otterlei M, Liabakk NB, Imai K, Fischer A, Durandy A, Krokan HE, Slupphaug G
Title
B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.
Journal
J Exp Med 201:2011-21 (2005)
DOI:
10.1084/jem.20050042
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