Biallelic variants in POLR3A encoding catalytic subunit of human RNA polymerase III cause primary microcephaly through perturbation of the mTOR signaling pathway Makhdoom, E., Asif, M., Abu Bakar, M., Sheraz, K., Alawbethani, S., Hoehne, W., Anjum, I., Fatima, A., Baig, J., Georgomanolis, T., Budde, B., Irshad, S., Zastrow, D., Kohler, J., Wheeler, M., Bernstein, J., Cirak, S., Nuernberg, P., Baig, S. M., Latif, F., Hussain, M., Batool, T., Hussain, G., Anwar, H. SPRINGERNATURE. 2024: 504-505

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