Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.V139I
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MDH2

NM_005918.4:p.V139I

Associated Papers

Genetics of MDH in humans.

Haberman A et al.

Essays in Biochemistry, 2024

A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.

Cannon-Albright LA et al.

Cancers, 2023

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known
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