Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.G2439D
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PIEZO1

NM_001142864.4:p.G2439D

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

Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia.

Jung R et al.

Circulation Research, 2022

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.

Mustacich DJ et al.

The American Journal of Medicine, 2022

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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."