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Torpedo_number Report for: 132
human-TG
Mutation
Kin.
Type
Evaluation system
Effect
Reference
G2319D
nat
Hishinuma_2006_J.Clin.Endocrinol.Metab_91_3100
,
De Jaco_2012_Febs.J_279_4293
mouse-ACHE
Mutation
Kin.
Type
Evaluation system
Effect
Reference
G135R
sdm
Intracellular retention
Site directed mutagenesis
De Jaco_2012_Febs.J_279_4293
ratno-3neur
Mutation
Kin.
Type
Evaluation system
Effect
Reference
G221R
site directed mutagenesis
Intracellular retention
Defect in protein processing
De Jaco_2010_J.Biol.Chem_285_28674
ratno-thyro
Mutation
Kin.
Type
Evaluation system
Effect
Reference
G2320R
nat
hypothyroidism
G2320R causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat
Kim_2000_Mol.Endocrinol_14_1944
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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