KEGG   VARIANT: 54941v1
Entry
54941v1                      Variant                               
Name
RNF125 mutation
Type
Loss of function
Gene
RNF125  ring finger protein 125 [KO:K12170]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610432
Network
nt06519  RLR signaling
Disease
H01806  Tenorio syndrome
Reference
PMID:25196541
  Authors
Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P
  Title
A new overgrowth syndrome is due to mutations in RNF125.
  Journal
Hum Mutat 35:1436-41 (2014)
DOI:10.1002/humu.22689
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