Varaico: Literature-Extracted Genetic Variants

Gene:GPX4
Variant:p.G51_V54delFs
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GPX4

NM_002085.5:p.G51_V54delFs

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

Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4.

Fedida A et al.

European Journal of Medical Genetics, 2020

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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."