Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA2
Variant:p.Q1196fs
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SMARCA2

NM_003070.5:p.Q1196fs

Associated Papers

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

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

Mari F et al.

Brain & Development, 2015

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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."