Biallelic Variants in POLR3A Encoding Catalytic Subunit of Human RNA Polymerase III Cause Primary Microcephaly Through Perturbation of the Mtor Signaling PathwayEhtisham ul Haq Makhdoom,Maria Asif,Moawia Abu Bakar,Khan Sheraz, Salem Alawbethani,Wolfgang Hoehne,Iram Anjum,Ambrin Fatima, Jamshaid Baig,Theodoros Georgomanolis,Birgit Budde,Saba Irshad,Diane Zastrow,Jennefer Kohler,Matthew Wheeler,Jon Bernstein,Sebahattin Cirak,Peter Nuernberg,Shahid M. Baig, Faiza Latif,Muhammad Sajid Hussain,Tahira Batool,Ghulam Hussain,Haseeb AnwarEUROPEAN JOURNAL OF HUMAN GENETICS(2024)引用 0|浏览39AI 理解论文溯源树样例生成溯源树,研究论文发展脉络Chat Paper正在生成论文摘要