Varaico: Literature-Extracted Genetic Variants

Gene:KCNN4
Variant:p.A279T
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KCNN4

NM_002250.3:p.A279T

Associated Papers

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

Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.

Rivera A et al.

American Journal of Physiology. Cell Physiology, 2019

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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."