Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A20
Variant:p.E66_G67Splc
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SLC25A20

NM_000387.6:p.E66_G67Splc

Associated Papers

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.

Tran VK et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

The relationship between the characteristics of burst suppression pattern and different etiologies in epilepsy.

Yang H et al.

Scientific Reports, 2021

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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."