KEGG   VARIANT: 1439v1
Entry
1439v1                      Variant                                
Name
CSF2RB mutation
Gene
CSF2RB  colony stimulating factor 2 receptor subunit beta [KO:K04738]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138981
Network
nt06518  JAK-STAT signaling
Disease
H01122  Congenital pulmonary alveolar proteinosis
Reference
PMID:21075760
  Authors
Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K
  Title
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
  Journal
J Med Genet 48:205-9 (2011)
DOI:10.1136/jmg.2010.082586
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