Associated Papers
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Lee CG et al.
Annals of Laboratory Medicine, 2021
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
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