Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.Q616_V617Splc
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PIEZO1

NM_001142864.4:p.Q616_V617Splc

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

Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.

More TA et al.

Annals of Hematology, 2020

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Andolfo I et al.

Blood, 2013

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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."