Varaico: Literature-Extracted Genetic Variants

Gene:KCNN4
Variant:p.V222L
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KCNN4

NM_002250.3:p.V222L

Associated Papers

Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.

Warang P et al.

Journal of Human Genetics, 2026

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Nakahara E et al.

Human Genome Variation, 2023

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.

Allegrini B et al.

Frontiers in Physiology, 2022

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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."