Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.Q2228*
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PIEZO1

NM_001142864.4:p.Q2228*

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

[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].

Zhang T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Datkhaeva I et al.

American Journal of Medical Genetics. Part A, 2018

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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."