KEGG   VARIANT: 4054v1
Entry
4054v1                      Variant                                
Name
LTBP3 mutation
Type
Loss of function
Gene
LTBP3  latent transforming growth factor beta binding protein 3 [KO:K08023]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602090
Network
nt06507  TGFB signaling
Disease
H00625  Tooth agenesis
H00900  Geleophysic dysplasia
Reference
  Authors
Yu M, Wong SW, Han D, Cai T
  Title
Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.
  Journal
Oral Dis 25:646-651 (2019)
DOI:10.1111/odi.12931
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