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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KY

Variant:p.D291V

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KY

NM_178554.6:p.D291V

hg38:chr3:134610222 T>A

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

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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."