Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.G557_G558delFs
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PEX1

NM_000466.3:p.G557_G558delFs

Associated Papers

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.

Bilamge A et al.

Journal of Child Neurology, 2025

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

Zhang Y et al.

European Journal of Ophthalmology, 2024

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
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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."