Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.T290I
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SLC16A2

NM_006517.5:p.T290I

Associated Papers

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N et al.

Neurology. Genetics, 2017

27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S et al.

Orphanet Journal of Rare Diseases, 2015

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.

Armour CM et al.

Plos One, 2015

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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."