Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO2
Variant:p.W531R
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PIEZO2

NM_001378183.1:p.W531R

Associated Papers

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.

Al Balushi A et al.

Journal of Pediatric Genetics, 2024

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