Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.R2302P
Back to variants list

PIEZO1

NM_001142864.4:p.R2302P

Associated Papers

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

Brewer CJ et al.

Prenatal Diagnosis, 2023

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.

Mone F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."