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Exome and RNA-Seq Analyses of an Incomplete Penetrance Variant in USP9X in Female-Specific Syndromic Intellectual Disability

Dong Li,Michael E. March,Tiancheng Wang,Victoria Merengwa,Livia Sertori Finoti,Samantha A. Schrier Vergano,Hakon Hakonarson,Elizabeth J. Bhoj

American Journal of Medical Genetics Part A（2022）

引用 1|浏览24
关键词
incomplete penetrance,intellectual disability,USP9X
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