Varaico: Literature-Extracted Genetic Variants

Gene:PNKP
Variant:p.S430fs
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PNKP

NM_007254.4:p.S430fs

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Impact of germline DNA repair gene variants on prognosis and treatment of men with advanced prostate cancer.

Hansen EB et al.

Scientific Reports, 2023

37932350 (PubMed )
Supplement: 41598_2023_46323_MOESM1_ESM.pdf
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