Varaico: Literature-Extracted Genetic Variants

Gene:KCNN4
Variant:p.A322V
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KCNN4

NM_002250.3:p.A322V

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

Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.

Nam YW et al.

Acta Pharmacologica Sinica, 2023

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

Ghesh L et al.

Clinical Genetics, 2022

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

Allegrini B et al.

Frontiers in Physiology, 2022

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.

Mansour-Hendili L et al.

American Journal of Hematology, 2021

Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices.

Picard V et al.

Frontiers in Physiology, 2020

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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."