Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.G107Splc
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MDH2

NM_005918.4:p.G107Splc

Associated Papers

Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Koch J et al.

Molecular Genetics and Metabolism, 2024

Bi-allelic variants in MDH2: Expanding the clinical phenotype.

Ticci C et al.

Clinical Genetics, 2022

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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."