Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G202R
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SLC16A2

NM_006517.5:p.G202R

Associated Papers

Structural insights into thyroid hormone transporter MCT8.

Tan J 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

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Ramon-Gomez JL et al.

Movement Disorders Clinical Practice, 2024

Delayed Myelination Pattern and an Abnormal Thyroid Profile Caused by a Novel Mutation in the SLC16A2 Gene.

Sharawat IK et al.

Indian Journal of Pediatrics, 2020

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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."