Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.E2494V
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PIEZO1

NM_001142864.4:p.E2494V

Associated Papers

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

Fustino NJ et al.

Annals of African Medicine, 2024

Heterogeneous phenotype of Hereditary Xerocytosis in association with PIEZO1 variants.

de Meira Oliveira P et al.

Blood Cells, Molecules & Diseases, 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."