KEGG   VARIANT: 50964v1
Entry
50964v1                      Variant                               
Name
SOST mutation
Type
Loss of function
Gene
SOST  sclerostin [KO:K16834]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605740
Network
nt06505  WNT signaling
Disease
H00486  Sclerosteosis
H02609  Craniodiaphyseal dysplasia
Reference
  Authors
Vasiliadis ES, Evangelopoulos DS, Kaspiris A, Benetos IS, Vlachos C, Pneumaticos SG
  Title
The Role of Sclerostin in Bone Diseases.
  Journal
J Clin Med 11:806 (2022)
DOI:10.3390/jcm11030806
Reference
  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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