Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.D1823A
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SCN2A

NM_001040142.2:p.D1823A

Associated Papers

Voltage-Gated Sodium Channel NaV1.2: Structural Perspective of the Genetic Variability.

Oliveira-Madureira T et al.

Biochemical Genetics, 2026

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Zou H et al.

Frontiers in Genetics, 2024

39906551 (PubMed )
Supplement: Table1.xlsx › Table_S1

Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.

Pan X et al.

Science (new York, N.y.), 2019

30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Liu Y et al.

Genetics and Molecular Biology, 0

28590501 (PubMed )
Supplement: 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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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."