Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : \;\;Bernal Barquero_2022_Int.J.Mol.Sci_23_9251
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : heterozygous TG gene variant p.Y2563C
| Title : Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect - Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| Author(s) : Bernal Barquero CE , Geysels RC , Jacques V , Carro GH , Martin M , Peyret V , Abregu MC , Papendieck P , Masini-Repiso AM , Savagner F , Chiesa AE , Citterio CE , Nicola JP |
| Ref : Int J Mol Sci , 23 :9251 , 2022 |
| Abstract : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| ESTHER : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| PubMedSearch : Bernal Barquero_2022_Int.J.Mol.Sci_23_9251 |
| PubMedID: 36012511 |
| Gene_locus related to this paper: human-TG |