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PRUNE1 C.933g>a Synonymous Variant Induces Exon 7 Skipping, Disrupts the DHHA2 Domain, and Leads to an Atypical NMIHBA Syndrome Presentation: Case Report and Review of the Literature

Christina L. Magyar,David R. Murdock,Lindsay C. Burrage,Hongzheng Dai,Seema R. Lalani,Richard A. Lewis,Yuezhen Lin,Marcela F. Astudillo,Jill A. Rosenfeld,Alyssa A. Tran,James B. Gibson,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao

American Journal of Medical Genetics Part A（2022）

引用 2|浏览3
关键词
alternative splicing,hypotonia,neurodevelopmental disorder,spastic paraparesis,splice site variant
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