Varaico: Literature-Extracted Genetic Variants

Gene:MDH2
Variant:p.A9V
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MDH2

NM_005918.4:p.A9V

Associated Papers

Genetics of MDH in humans.

Haberman A et al.

Essays in Biochemistry, 2024

Integrated genomic, transcriptomic and metabolomic analysis reveals MDH2 mutation-induced metabolic disorder in recurrent focal segmental glomerulosclerosis.

Shen Q et al.

Frontiers in Immunology, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant.

Kanzawa M et al.

Journal of the Endocrine Society, 2020

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain
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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."