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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHA1

Variant:p.R253_V254Splc

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PDHA1

NM_000284.4:p.R253_V254Splc

hg38:chrX:19355684 A>G

Associated Papers

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Merkevicius K et al.

Brain : a Journal of Neurology, 2025

41239557 (PubMed )

Supplement: awaf430_supplementary_data.pdf

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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."