Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.L590R
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PEX1

NM_000466.3:p.L590R

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 › Missense

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY et al.

Human Mutation, 2009

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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."