An integrated framework for functional dissection of variable expressivity in genetic disorders.
针对遗传疾病中可变表达的功能性剖析,构建一个综合框架
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doi:10.1101/2025.07.22.25331885
Sun Jiawan, Noss Serena, Banerjee Deepro, Bhavana Venkata Hemanjani, Smolen Corrine, Das Maitreya, Giardine Belinda, Prabhu Anisha, Amor David J, Pope Kate, Lockhart Paul J, Girirajan Santhosh