Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.A1049delFs
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PEX1

NM_000466.3:p.A1049delFs

Associated Papers

Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.

Malone KE et al.

Genetics in Medicine Open, 2025

40519747 (PubMed )
Supplement: mmc1.xlsx › HC_LOF
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