Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A5
Variant:p.R130Q
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SLC5A5

NM_000453.3:p.R130Q

Associated Papers

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

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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."