Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L1611P
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SCN2A

NM_001040142.2:p.L1611P

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Berg AT et al.

Brain : a Journal of Neurology, 2024

38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Hudac CM et al.

Journal of Autism and Developmental Disorders, 2024

37031308 (PubMed )
Supplement: 10803_2023_5897_MOESM2_ESM.xlsx › SITable2

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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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."