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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIEZO2

Variant:p.S517_W518del1

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PIEZO2

NM_001378183.1:p.S517_W518del1

hg38:chr18:10794976 CCAG>C

Associated Papers

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Yamaguchi T et al.

American Journal of Medical Genetics. Part A, 2019

30941898 (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."