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Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism
by
Geysels, Romina Celeste
,
Bernal Barquero, Carlos Eduardo
,
Martín, Mariano
,
Peyret, Victoria
,
Nocent, Martina
,
Sobrero, Gabriela
,
Muñoz, Liliana
,
Signorino, Malvina
,
Testa, Graciela
,
Castro, Ricardo Belisario
,
Masini-Repiso, Ana María
,
Miras, Mirta Beatriz
,
Nicola, Juan Pablo
Published in
Frontiers in endocrinology (Lausanne)
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Frontiers In Endocrinology
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Child
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Congenital Hypothyroidism
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Congenital Hypothyroidism - Genetics
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Endocrinology
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Exons
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Humans
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Iodide Transport Defect
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Iodides - Metabolism
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Pathogenic Synonymous Variant
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Pre-Mrna Splicing Defect
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Rna Precursors
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Sodium/Iodide Symporter
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Symporters - Genetics
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