Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.P520S
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SLC16A2

NM_006517.5:p.P520S

Associated Papers

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

Capri Y et al.

Human Mutation, 2013

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC et al.

Molecular and Cellular Endocrinology, 2010

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Vaurs-Barrière C et al.

Annals of Neurology, 2009

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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."