Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.F436delFs
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SLC16A2

NM_006517.5:p.F436delFs

Associated Papers

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Vancamp P et al.

Frontiers in Endocrinology, 2020

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

Azzolini S et al.

Brain & Development, 2014

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

Gika AD et al.

Developmental Medicine and Child Neurology, 2010

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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."