KEGG   VARIANT: 161742v1
Entry
161742v1                      Variant                              
Name
SPRED1 mutation
Type
Loss of function
Gene
SPRED1  sprouty-related, EVH1 domain-containing protein 1 [KO:K04703]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609291
Network
nt06526  MAPK signaling
Disease
H01986  Legius syndrome
Reference
PMID:34103645
  Authors
Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR
  Title
Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line.
  Journal
Commun Biol 4:696 (2021)
DOI:10.1038/s42003-021-02149-3
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
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