Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.E355insFs
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SLC16A2

NM_006517.5:p.E355insFs

Associated Papers

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Islam MS et al.

Endocrine Journal, 2019

Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.

Ono E et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016

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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."