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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.
Cha Gon Lee
Change Seok Ki
Published in:
Annals of laboratory medicine (2021)
Keyphrases
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early onset
intellectual disability
case report
autism spectrum disorder