Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Y223Y
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SLC16A2

NM_006517.5:p.Y223Y

Associated Papers

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Frints SG et al.

European Journal of Human Genetics : Ejhg, 2008

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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."