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P750: Clinical Validation of Transcriptome Analysis for the Diagnosis of Mendelian Disorders

Kristina Macakova,Jefferson Sinson,Sen Zhao,Hongzheng Dai,Jill Rosenfeld,Gladys Zapata, Shenglan Li,Patricia Ward,Christiana Wang,Chunjing Qu, Becky Maywald, Undiagnosed Disease Network,Brendan Lee,Christine Eng,Pengfei Liu

Genetics in Medicine Open（2024）

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