KEGG   VARIANT: 57169v1
Entry
57169v1                      Variant                               
Name
ZNFX1 mutation
Type
Loss of function
Gene
ZNFX1  zinc finger NFX1-type containing 1 [KO:K27391]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 618931
Network
nt06519  RLR signaling
Disease
H02525  Disorders of innate immunity
Reference
  Authors
Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Beziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J
  Title
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
  Journal
Proc Natl Acad Sci U S A 118:2102804118 (2021)
DOI:10.1073/pnas.2102804118
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