KEGG   VARIANT: 1438v1
Entry
1438v1                      Variant                                
Name
CSF2RA mutation
Type
Loss of function
Gene
CSF2RA  colony stimulating factor 2 receptor subunit alpha [KO:K05066]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 306250
Network
nt06518  JAK-STAT signaling
Disease
H01122  Congenital pulmonary alveolar proteinosis
Reference
PMID:18955567
  Authors
Martinez-Moczygemba M, Doan ML, Elidemir O, Fan LL, Cheung SW, Lei JT, Moore JP, Tavana G, Lewis LR, Zhu Y, Muzny DM, Gibbs RA, Huston DP
  Title
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
  Journal
J Exp Med 205:2711-6 (2008)
DOI:10.1084/jem.20080759
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