Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.R2718*
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PIEZO2

NM_022068.4:p.R2718*

Associated Papers

Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.

Akinci G et al.

Neuromuscular Disorders : Nmd, 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."