Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.D424N
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SLC16A2

NM_006517.5:p.D424N

Associated Papers

Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.

Ge Y et al.

Cell, 2025

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

McWalter K et al.

Hgg Advances, 2025

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

Tassinari M et al.

Nature Communications, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Çelik N et al.

European Journal of Pediatrics, 2024

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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."