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Torpedo_number Report for: 36
human-BCHE
Mutation
Kin.
Type
Evaluation system
Effect
Reference
A34V
nat
Expression
atypical silent phenotype
Delacour_2014_Biochem.Pharmacol_92_476
human-TG
Mutation
Kin.
Type
Evaluation system
Effect
Reference
A2234D
nat
Congenital goiter with hypothyroidism
Natural mutation congenital hypothyroidism with goitre caused by compound heterozygous mutations p.C164Y/p.L234fsX237 and p.R296X/A2234D(R277X/p.A2215D)
Caputo_2007_Clin.Endocrinol.(Oxf)_67_351
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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