KEGG   VARIANT: 4040v3
Entry
4040v3                      Variant                                
Name
LRP6 gain-of-function mutation
Type
Gain of function
Gene
LRP6  low-density lipoprotein receptor-related protein 6 isoform b precursor [KO:K03068]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603507
Network
nt06505  WNT signaling
Disease
H00436  Osteopetrosis
Reference
PMID:31085352
  Authors
Whyte MP, McAlister WH, Zhang F, Bijanki VN, Nenninger A, Gottesman GS, Lin EL, Huskey M, Duan S, Dahir K, Mumm S
  Title
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6.
  Journal
Bone 127:228-243 (2019)
DOI:10.1016/j.bone.2019.05.003
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