Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.N445K
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SLC25A12

NM_003705.5:p.N445K

Associated Papers

AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.

Pardo B et al.

International Journal of Molecular Sciences, 2022

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

Wesół-Kucharska D et al.

Pediatric Endocrinology, Diabetes, and Metabolism, 2022

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

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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."