KEGG   VARIANT: 8471v1
Entry
8471v1                      Variant                                
Name
IRS4 mutation
Type
Loss of function
Gene
IRS4  insulin receptor substrate 4 [KO:K17446]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300904
Network
nt06325  Hormone/cytokine signaling
Disease
H00250  Congenital nongoitrous hypothyroidism (CHNG)
Reference
PMID:30061370
  Authors
Heinen CA, de Vries EM, Alders M, Bikker H, Zwaveling-Soonawala N, van den Akker ELT, Bakker B, Hoorweg-Nijman G, Roelfsema F, Hennekam RC, Boelen A, van Trotsenburg ASP, Fliers E
  Title
Mutations in IRS4 are associated with central hypothyroidism.
  Journal
J Med Genet 55:693-700 (2018)
DOI:10.1136/jmedgenet-2017-105113
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