Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.L998L
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PIEZO2

NM_001378183.1:p.L998L

Associated Papers

Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

Oliwa A et al.

American Journal of Medical Genetics. Part A, 2023

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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."