Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.G853V
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SMARCA2

NM_003070.5:p.G853V

Associated Papers

Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.

Yang Y et al.

Seizure, 2025

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Trajkova S et al.

Hgg Advances, 2024

38751117 (PubMed )
Supplement: mmc1.pdf

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.

Chater-Diehl E et al.

Bmc Medical Genomics, 2019

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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."