Varaico: Literature-Extracted Genetic Variants

Gene:PCK2
Variant:p.P316L
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PCK2

NM_004563.4:p.P316L

Associated Papers

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Fielder SM et al.

Embo Molecular Medicine, 2025

40859057 (PubMed )
Supplement: 44321_2025_290_MOESM1_ESM.pdf

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Fielder SM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672495 (PubMed )
Supplement: NIHPP2025.07.08.25330848V1-supplement-1.pdf
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