Varaico: Literature-Extracted Genetic Variants

Gene:SMARCE1
Variant:p.Y76C
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SMARCE1

NM_003079.5:p.Y76C

Associated Papers

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

Valencia AM et al.

Nature Genetics, 2023

Coffin-Siris syndrome and cancer susceptibility.

Borja NA et al.

Genetics in Medicine Open, 2023

Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.

Lin B et al.

Journal of Pediatric Hematology/oncology, 2020

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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."