Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G122V
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SLC16A2

NM_006517.5:p.G122V

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Shimojima K et al.

Intractable & Rare Diseases Research, 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."