Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.S2195L
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PIEZO1

NM_001142864.4:p.S2195L

Associated Papers

PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.

Ludlow MJ et al.

Iscience, 2025

PIEZO1 variant implications for biological understanding and human health.

Cheng CW et al.

Open Biology, 2025

PIEZO1 loss-of-function compound heterozygous mutations in the rare congenital human disorder Prune Belly Syndrome.

Amado NG et al.

Nature Communications, 2024

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.

Najafi K et al.

Scientific Reports, 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."