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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCK1

Variant:p.G275delFs

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PCK1

NM_002591.4:p.G275delFs

hg38:chr20:57563587 AG>A

Associated Papers

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.

Bernhardt I et al.

American Journal of Medical Genetics. Part A, 2026

41549939 (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."