Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.G266R
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SCN2A

NM_001040142.2:p.G266R

Associated Papers

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Granata P et al.

Bmc Genomics, 2024

39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S12

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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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."