Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.G2119Splc
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PIEZO2

NM_022068.4:p.G2119Splc

Associated Papers

PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.

Sherlaw-Sturrock CA et al.

American Journal of Medical Genetics. Part A, 2022

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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."