Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.E668fs
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PIEZO2

NM_001378183.1:p.E668fs

Associated Papers

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Pérez-Vidarte F et al.

Annals of Clinical and Translational Neurology, 2025

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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."