KEGG   VARIANT: 867v1
Entry
867v1                      Variant                                 
Name
CBL mutation
Type
Loss of function
Gene
CBL  Cbl proto-oncogene [KO:K04707]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 165360
Network
nt06526  MAPK signaling
Disease
H02190  CBL syndrome
H02541  Juvenile myelomonocytic leukemia
Reference
PMID:36394128
  Authors
Tartaglia M, Aoki Y, Gelb BD
  Title
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
  Journal
Am J Med Genet C Semin Med Genet 190:425-439 (2022)
DOI:10.1002/ajmg.c.32012
Reference
PMID:34175492
  Authors
Riller Q, Rieux-Laucat F
  Title
RASopathies: From germline mutations to somatic and multigenic diseases.
  Journal
Biomed J 44:422-432 (2021)
DOI:10.1016/j.bj.2021.06.004
Reference
PMID:33796386
  Authors
Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R
  Title
Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management.
  Journal
Am J Blood Res 11:1-21 (2021)
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