Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126B
Variant:p.V28A
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TMEM126B

NM_018480.7:p.V28A

Associated Papers

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.

Stanescu S et al.

Orphanet Journal of Rare Diseases, 2022

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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."