KEGG   VARIANT: 10584v1
Entry
10584v1                      Variant                               
Name
COLEC10 mutation
Gene
COLEC10  collectin subfamily member 10 [KO:K10065]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607620
Network
nt06513  Complement cascade
Disease
H01887  3MC syndrome
Reference
PMID:28301481
  Authors
Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V
  Title
COLEC10 is mutated in 3MC patients and regulates early craniofacial development.
  Journal
PLoS Genet 13:e1006679 (2017)
DOI:10.1371/journal.pgen.1006679
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