Gomes Pio M - Search Results

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The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.

Gomes Pio M, Adrover E, Miras MB, Sobrero G, Molina MF, Scheps KG, Rivolta CM, Targovnik HM. Gomes Pio M, et al. Mol Cell Endocrinol. 2023 Jul 15;572:111948. doi: 10.1016/j.mce.2023.111948. Epub 2023 May 9. Mol Cell Endocrinol. 2023. PMID: 37164149

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.

Siffo S, Gomes Pio M, Martínez EB, Lachlan K, Walker J, Weill J, González-Sarmiento R, Rivolta CM, Targovnik HM. Siffo S, et al. Among authors: gomes pio m. Endocrine. 2023 Apr;80(1):47-53. doi: 10.1007/s12020-022-03284-5. Epub 2022 Dec 22. Endocrine. 2023. PMID: 36547798

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