Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.A1156P
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SMARCA2

NM_003070.5:p.A1156P

Associated Papers

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia AM et al.

Nature Genetics, 2023

37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419

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

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Mari F et al.

Brain & Development, 2015

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Sousa SB et al.

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

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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."