KEGG   VARIANT: 1441v1
Entry
1441v1                      Variant                                
Name
CSF3R mutation
Type
Loss of function
Gene
CSF3R  colony stimulating factor 3 receptor [KO:K05061]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138971
Network
nt06518  JAK-STAT signaling
Disease
H00100  Neutropenic disorders
Reference
PMID:24753537
  Authors
Triot A, Jarvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Diaz JL, Racek T, Puchalka J, Gertz EM, Schaffer AA, Kotlarz D, Pfeifer D, Diaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sanchez de Toledo Codina J, Yague J, Touw IP, Unal E, Klein C
  Title
Inherited biallelic CSF3R mutations in severe congenital neutropenia.
  Journal
Blood 123:3811-7 (2014)
DOI:10.1182/blood-2013-11-535419
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