KEGG   VARIANT: 8930v1
Entry
8930v1                      Variant                                
Name
MBD4 mutation
Type
Loss of function
Gene
MBD4  methyl-CpG binding domain 4, DNA glycosylase [KO:K10801]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603574
Network
nt06504  Base excision repair
Disease
H02624  Tumor predisposition syndrome
Reference
  Authors
Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, Bajel A, Luiken B, Rijken M, Mclennan T, Hoogenboezem RM, Kavelaars FG, Frohling S, Blewitt ME, Bindels EM, Alexander WS, Lowenberg B, Roberts AW, Valk PJM, Majewski IJ
  Title
MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML.
  Journal
Blood 132:1526-1534 (2018)
DOI:10.1182/blood-2018-05-852566
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