KEGG   VARIANT: 128178v1
Entry
128178v1                      Variant                              
Name
EDARADD mutation
Type
Loss of function
Gene
EDARADD  EDAR associated via death domain [KO:K23324]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606603
Network
nt06516  TNF signaling
Disease
H00651  Hypohidrotic ectodermal dysplasia
Reference
PMID:17354266
  Authors
Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A
  Title
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
  Journal
Hum Mutat 28:703-9 (2007)
DOI:10.1002/humu.20500
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