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Mutation Report for: IVS8-1G>C_human-TG

IVS8-1G>C_human-TG
Gene_Locus|human-TG
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|g.IVS8-1G>C a splicing site mutation of intron 8 skipping of exon 9 Mutation IVS8-1G>C_human-TG
    Kinetic parameters|none


    References:
      Title: Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene
      Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB
      Ref: J Autoimmun, 86:116, 2018 : PubMed

              




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