Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.S94S
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TH

NM_000360.4:p.S94S

Associated Papers

Effects of Chemical Chaperones on Thyroid Hormone Transport by MCT8 Mutants in Patient-Derived Fibroblasts.

Groeneweg S et al.

Endocrinology, 2018

Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.

Groeneweg S et al.

Endocrinology, 2017

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Novara F et al.

Human Mutation, 2017

Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

Kersseboom S et al.

Molecular Endocrinology (baltimore, Md.), 2013

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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."