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A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Martín M, Modenutti CP, Gil Rosas ML, Peyret V, Geysels RC, Bernal Barquero CE, Sobrero G, Muñoz L, Signorino M, Testa G, Miras MB, Masini-Repiso AM, Calcaterra NB, Coux G, Carrasco N, Martí MA, Nicola JP. Martín M, et al. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1867-1881. doi: 10.1210/clinem/dgab283. J Clin Endocrinol Metab. 2021. PMID: 33912899 Free PMC article.
Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.
Geysels RC, Bernal Barquero CE, Martín M, Peyret V, Nocent M, Sobrero G, Muñoz L, Signorino M, Testa G, Castro RB, Masini-Repiso AM, Miras MB, Nicola JP. Geysels RC, et al. Among authors: martin m. Front Endocrinol (Lausanne). 2022 May 4;13:868891. doi: 10.3389/fendo.2022.868891. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35600585 Free PMC article.
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