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

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."