Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A12
Variant:p.R134*
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SLC25A12

NM_003705.5:p.R134*

Associated Papers

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

Bölsterli BK et al.

Nutrients, 2022

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

Pardo B et al.

International Journal of Molecular Sciences, 2022

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc3.xlsx › B__Coding_mutations_CTRL
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