Varaico: Literature-Extracted Genetic Variants

Gene:PEX13
Variant:p.M1V
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PEX13

NM_002618.4:p.M1V

Associated Papers

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.

Su L et al.

Molecular Genetics & Genomic Medicine, 2024

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Alfadhel M et al.

Frontiers in Pediatrics, 2021

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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."