Detalhe da pesquisa
1.
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Endocrine
; 80(1): 47-53, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547798
2.
The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.
Mol Cell Endocrinol
; 572: 111948, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37164149