Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A5
Variant:p.Q267P
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SLC5A5

NM_000453.3:p.Q267P

Associated Papers

The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number.

De La Vieja A et al.

Journal of Cell Science, 2004

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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."