VARIANT: 4054v1
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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
PMID:
29969831
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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