Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.D851H
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SMARCA2

NM_003070.5:p.D851H

Associated Papers

Genotype and phenotype correlation in epilepsy patients with SMARCA2 variants.

Yang Y et al.

Seizure, 2025

Ten-year follow-up of Nicolaides-Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2-associated NCBRS.

Zhang X et al.

Molecular Genetics & Genomic Medicine, 2022

New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.

Tang S et al.

American Journal of Medical Genetics. Part A, 2017

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.

Ejaz R et al.

Clinical Case Reports, 2016

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Sousa SB et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014

Creating a neural specific chromatin landscape by npBAF and nBAF complexes.

Staahl BT et al.

Current Opinion in Neurobiology, 2013

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt JK et al.

Nature Genetics, 2012

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