Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L248P
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SCN2A

NM_001040142.2:p.L248P

Associated Papers

Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Issa MY et al.

American Journal of Medical Genetics. Part A, 2024

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Crawford K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf

PEHO syndrome: the endpoint of different genetic epilepsies.

Chitre M et al.

Journal of Medical Genetics, 2018

May PEHO Syndrome be a Clinical Entity Associated with Early Onset Encephalopathies?

Ekici A et al.

Annals of Indian Academy of Neurology, 0

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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."