Varaico: Literature-Extracted Genetic Variants

Gene:PPIP5K2
Variant:p.R1002Q
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PPIP5K2

NM_001276277.3:p.R1002Q

Associated Papers

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_9

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Rashid M et al.

Nature Communications, 2019

31101826 (PubMed )
Supplement: 41467_2019_9979_MOESM5_ESM.xlsx › Supp_table_2a
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