Biallelic variants in POLR3A encoding catalytic subunit of human RNA polymerase III cause primary microcephaly through perturbation of the mTOR signaling pathway

Ehtisham 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 Anwar

EUROPEAN JOURNAL OF HUMAN GENETICS(2024)

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