Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.I409L
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KCNA2

NM_004974.4:p.I409L

Associated Papers

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

Xie C et al.

Molecular Neurobiology, 2024

Next-Generation Sequencing Technologies and Neurogenetic Diseases.

Sun H et al.

Life (basel, Switzerland), 2021

Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report.

Gong P et al.

Frontiers in Genetics, 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."