Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.D1169G
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SMARCA4

NM_003072.5:p.D1169G

Associated Papers

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Smits DJ et al.

European Journal of Human Genetics : Ejhg, 2025

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Qian Y et al.

Journal of Autism and Developmental Disorders, 2022

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS2_26-09-2021.xlsx › CTGA-unique_variants

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM3_ESM.xlsx › Clinical

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

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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."