KEGG   VARIANT: 3849v1
Entry
3849v1                      Variant                                
Name
KRT2 mutation
Type
Loss of function
Gene
KRT2  keratin 2 [KO:K07605]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600194
Network
nt06545  Cornified envelope formation
Disease
H00693  Ichthyosis bullosa of Siemens
Reference
PMID:7524919
  Authors
Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR
  Title
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
  Journal
Nat Genet 7:485-90 (1994)
DOI:10.1038/ng0894-485
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