Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.R52C
Back to variants list

MDH2

NM_005918.4:p.R52C

Associated Papers

Presentation of a missense MDH2 variant in a Greek patient with pheochromocytoma.

Papanastasiou L et al.

Hormones (athens, Greece), 2025

Genetics of MDH in humans.

Haberman A et al.

Essays in Biochemistry, 2024

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.

Jungtrakoon Thamtarana P et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."