Varaico: Literature-Extracted Genetic Variants

Gene:PDC
Variant:p.M1T
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PDC

NM_002597.5:p.M1T

Associated Papers

Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the Gβ1 subunit.

Reddy HP et al.

Frontiers in Pharmacology, 2025

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Schipani A et al.

Genes, 2023

Evolution of function in protein superfamilies, from a structural perspective.

Todd AE et al.

Journal of Molecular Biology, 2001

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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."