KEGG   VARIANT: 151516v1
Entry
151516v1                      Variant                              
Name
ASPRV1 mutation
Type
Loss of function
Gene
ASPRV1  retroviral-like aspartic protease 1 [KO:K24552]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611765
Network
nt06545  Cornified envelope formation
Disease
H02449  Autosomal dominant lamellar ichthyosis
Reference
PMID:32516568
  Authors
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA
  Title
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
  Journal
Am J Hum Genet 107:158-163 (2020)
DOI:10.1016/j.ajhg.2020.05.013
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