Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.Q93*
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SLC16A2

NM_006517.5:p.Q93*

Associated Papers

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Groeneweg S et al.

Nature Communications, 2025

40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM6_ESM.xlsx › Sup_Fig_4

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

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