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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC16A2

Variant:p.P487delFs

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SLC16A2

NM_006517.5:p.P487delFs

hg38:chrX:74531388 GC>G

Associated Papers

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Çelik N et al.

European Journal of Pediatrics, 2024

39699593 (PubMed )

Treatment with TRIAC in pediatric patients with MCT8.

Gazek N et al.

Archivos Argentinos De Pediatria, 2023

36883873 (PubMed )

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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."