Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.I434S
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SLC16A2

NM_006517.5:p.I434S

Associated Papers

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC et al.

Molecular and Cellular Endocrinology, 2010

Thyroid hormone transport in and out of cells.

Visser WE et al.

Trends in Endocrinology and Metabolism: Tem, 2008

Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.

Friesema EC et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE et al.

American Journal of Human Genetics, 2005

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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."