Varaico: Literature-Extracted Genetic Variants

Gene:ANO4
Variant:p.V528M
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ANO4

NM_001286615.2:p.V528M

Associated Papers

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.

Yang F et al.

American Journal of Human Genetics, 2024

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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."