Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.F218L
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PEX6

NM_000287.4:p.F218L

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.

Schieferdecker A et al.

International Journal of Molecular Sciences, 2019

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2016

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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."