KEGG   VARIANT: 1440v1
Entry
1440v1                      Variant                                
Name
CSF3 mutation
Type
Loss of function
Gene
CSF3  granulocyte colony-stimulating factor isoform a precursor [KO:K05423]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138970
Network
nt06518  JAK-STAT signaling
Disease
H00100  Neutropenic disorders
Reference
PMID:37612131
  Authors
Khouj E, Marafi D, Aljamal B, Hajiya A, Elshafie RM, Hashem MO, Abdulwahab F, Jaafar A, Alshidi T, Aboelanine AH, Awaji A, Alkuraya FS
  Title
Human 'knockouts' of CSF3 display severe congenital neutropenia.
  Journal
Br J Haematol 203:477-480 (2023)
DOI:10.1111/bjh.19054
LinkDB

DBGET integrated database retrieval system