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Mutation Report for: T309A_human-TG

T309A_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.T309A Thr309Ala c.925A>G (p.T290A Thr290Ala without 19-aminoacid signal peptide) Exon 8 heterozygote
    Kinetic parameters|none


    References:
      Title: Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
      Hu X, Chen R, Fu C, Fan X, Wang J, Qian J, Yi S, Li C, Luo J and Shen Y <9 more author(s)>
      Ref: Mol Cell Endocrinol, 423:60, 2016 : PubMed

              




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