Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.G37R
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MDH2

NM_005918.4:p.G37R

Associated Papers

Genetics of MDH in humans.

Haberman A et al.

Essays in Biochemistry, 2024

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

Bölsterli BK et al.

Nutrients, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

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

Ticci C et al.

Clinical Genetics, 2022

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

Pardo B et al.

International Journal of Molecular Sciences, 2022

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ022

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.

Ait-El-Mkadem S et al.

American Journal of Human Genetics, 2017

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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."