KEGG   VARIANT: 51702v1
Entry
51702v1                      Variant                               
Name
PADI3 mutation
Type
Loss of function
Gene
PADI3  peptidyl arginine deiminase 3 [KO:K01481]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606755
Network
nt06545  Cornified envelope formation
Disease
H01796  Uncombable hair syndrome
Reference
  Authors
U Basmanav FB, Cau L, Tafazzoli A, Mechin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJ, Oprisoreanu AM, Wehner M, Thiele H, Altmuller J, Nurnberg P, Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC
  Title
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
  Journal
Am J Hum Genet 99:1292-1304 (2016)
DOI:10.1016/j.ajhg.2016.10.004
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