Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.W214G
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PDHA1

NM_000284.4:p.W214G

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

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
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