Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.A2227V
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PIEZO1

NM_001142864.4:p.A2227V

Associated Papers

PIEZO1 variant implications for biological understanding and human health.

Cheng CW et al.

Open Biology, 2025

PIEZO1 is the most common monogenic etiology of non-immune hydrops fetalis detected by prenatal exome sequencing.

Brewer CJ et al.

Prenatal Diagnosis, 2023

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Ghesh L et al.

Clinical Genetics, 2023

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

35910219 (PubMed )
Supplement: DataSheet1.xlsx › Table_S7

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

Zhou X et al.

Frontiers in Genetics, 2021

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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."