Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP3
Variant:p.V311_G312insFs
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GTPBP3

NM_032620.4:p.V311_G312insFs

Associated Papers

Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.

Li Q et al.

Genes & Diseases, 2025

39397867 (PubMed )
Supplement: mmc1.docx

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Chang X et al.

Frontiers in Genetics, 2018

30323833 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Select a paper to view details
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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."