Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A5
Variant:p.G18R
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SLC5A5

NM_000453.3:p.G18R

Associated Papers

Structural insights into the mechanism of the sodium/iodide symporter.

Ravera S et al.

Nature, 2022

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.

Durgia H et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.

Bernal Barquero CE et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.

Martín M et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.

Zhang CX et al.

Frontiers in Endocrinology, 2021

First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.

Stoupa A et al.

European Journal of Endocrinology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."