Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R1177W
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SCN2A

NM_001040142.2:p.R1177W

Associated Papers

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Lunke S et al.

Nature Medicine, 2023

37291213 (PubMed )
Supplement: 41591_2023_2401_MOESM1_ESM.pdf

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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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."