Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.R224Q
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PQBP1

NM_001032382.2:p.R224Q

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: mmc2.xlsx › Supplementary_Table_6

Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.

Yi T et al.

Esc Heart Failure, 2023

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