Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system
常染色体显性遗传的 CDC45 缺陷伴等位基因表达偏倚会导致一种新的免疫系统遗传疾病。
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doi:10.64898/2026.03.04.709645
Guilz, Nicole C; Ahn, Yong-Oon; Seo, Seungmae; Saturne, Madrikha D; Conte, Matilde I; Shehzad, Sana R; Hegewisch-Solloa, Everardo; Pedroza, Luis Alberto; Castillo, Micah; Gunaratne, Preethi; Chinn, Ivan K; Lupski, James R; Mace, Emily M