Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.S245_G254insFs
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SLC16A2

NM_006517.5:p.S245_G254insFs

Associated Papers

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.

Cortès-Saladelafont E et al.

Developmental Medicine and Child Neurology, 2018

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.

Rodrigues F et al.

Bmc Pediatrics, 2014

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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."