Varaico: Literature-Extracted Genetic Variants

Gene:PDHB
Variant:p.I142M
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PDHB

NM_000925.4:p.I142M

Associated Papers

Pyruvate dehydrogenase complex component B: A Gene Associated with Cuproptosis and Encoding the Beta Subunit of Pyruvate Dehydrogenase Is Involved in the Oxidative Decarboxylation Reaction.

Liu R et al.

Dna and Cell Biology, 2025

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-BH-A0E2-01A.domain

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

Okajima K et al.

Molecular Genetics and Metabolism, 2008

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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."