Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E422delFs
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KCNA2

NM_004974.4:p.E422delFs

Associated Papers

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Döring JH et al.

International Journal of Molecular Sciences, 2021

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

Nashabat M et al.

Seizure, 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."