Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.V167L
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PDHA1

NM_000284.4:p.V167L

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

Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series.

Woodward KE et al.

Journal of Child Neurology, 2023

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