VARIANT: 6424v1
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Entry
6424v1 Variant
Name
SFRP4 mutation
Type
Loss of function
Gene
SFRP4
secreted frizzled related protein 4 [KO:
K02185
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
606570
Network
nt06505
WNT signaling
Disease
H00479
Metaphyseal dysplasias
Reference
PMID:
32328030
Authors
Huybrechts Y, Mortier G, Boudin E, Van Hul W
Title
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
Journal
Front Endocrinol (Lausanne) 11:165 (2020)
DOI:
10.3389/fendo.2020.00165
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