Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A42
Variant:p.P226S
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SLC25A42

NM_178526.5:p.P226S

Associated Papers

Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.

Snyder MT et al.

American Journal of Medical Genetics. Part A, 2024

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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."