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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIEZO2

Variant:p.R1081*

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PIEZO2

NM_022068.4:p.R1081*

hg38:chr18:10761045 G>A

Associated Papers

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect.

Masingue M et al.

Neuromuscular Disorders : Nmd, 2019

30578100 (PubMed )

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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."