Varaico: Literature-Extracted Genetic Variants

Gene:GPX4
Variant:p.Y127*
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GPX4

NM_001039848.4:p.Y127*

Associated Papers

Characterization of a patient-derived variant of GPX4 for precision therapy.

Liu H et al.

Nature Chemical Biology, 2022

Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.

Cheff DM et al.

Orphanet Journal of Rare Diseases, 2021

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC et al.

Journal of Medical Genetics, 2014

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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."