Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.S1176G
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SMARCA4

NM_003072.5:p.S1176G

Associated Papers

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

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F et al.

Journal of Human Genetics, 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."