Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.G295S
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SLC16A2

NM_006517.5:p.G295S

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_MOESM3_ESM.xlsx › Suppl_Fig.5_uptake

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

Iwayama H et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.

Iwayama H et al.

Frontiers in Neurology, 2021

Disorder of thyroid hormone transport into the tissues.

Groeneweg S et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

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