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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTPBP3

Variant:p.V253A

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GTPBP3

NM_032620.4:p.V253A

hg38:chr19:17339216 T>C

Associated Papers

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Baldo MS et al.

Genes, 2023

37628588 (PubMed )

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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."