KEGG   VARIANT: 23581v1
Entry
23581v1                      Variant                               
Name
CASP14 mutation
Type
Loss of function
Gene
CASP14  caspase 14 [KO:K04401]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605848
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
Reference
PMID:27494380
  Authors
Kirchmeier P, Zimmer A, Bouadjar B, Rosler B, Fischer J
  Title
Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis.
  Journal
Acta Derm Venereol 96:102-104 (2017)
DOI:10.2340/00015555-2510
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