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Identification and Functional Analysis of a Novel SMARCC2 Splicing Variant in a Family with Syndromic Neurodevelopmental Disorder.

Ming Li, Jingqi Lin,Hongjun Fei, Jinyu Liu, Yiyao Chen, Xu Han,Yanlin Wang,Jian Wang,Renyi Hua,Shuyuan Li,Niu Li

Orphanet Journal of Rare Diseases（2025）

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Key words
Syndromic neurodevelopmental disorder,SMARCC2,Novel splicing variant,cDNA sequencing,Crystal structure analysis
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