KEGG   VARIANT: 10654v1
Entry
10654v1                      Variant                               
Name
PMVK deficiency
Type
Loss of function
Gene
PMVK  phosphomevalonate kinase [KO:K13273]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607622
Network
nt06034  Cholesterol biosynthesis
Disease
H01933  Porokeratosis
Reference
  Authors
Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z
  Title
Genomic variations of the mevalonate pathway in porokeratosis.
  Journal
Elife 4:e06322 (2015)
DOI:10.7554/eLife.06322
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