Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.W1594R
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SCN2A

NM_001040142.2:p.W1594R

Associated Papers

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Richardson R et al.

American Journal of Medical Genetics. Part A, 2022

Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure.

Morichi S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

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

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.

Zhang Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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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."