Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.S714_Q715ins0
Back to variants list

PEX1

NM_000466.3:p.S714_Q715ins0

Associated Papers

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

Bilamge A et al.

Journal of Child Neurology, 2025

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Barillari MR et al.

Molecular Genetics and Metabolism Reports, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."