Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A15
Variant:p.E139G
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SLC25A15

NM_014252.4:p.E139G

Associated Papers

Liver transplantation can prevent the progression of neurological damage in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and maintain long-term metabolic stability - The largest single-center experience.

Ju H et al.

Orphanet Journal of Rare Diseases, 2025

[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

Guan HZ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017

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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."