Varaico: Literature-Extracted Genetic Variants

Gene:PIEZO1
Variant:p.K2166_K2169del0
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PIEZO1

NM_001142864.4:p.K2166_K2169del0

Associated Papers

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

Fustino NJ et al.

Annals of African Medicine, 2024

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