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Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet 28, 383-387 (2020).
-related autosomal recessive encephalopathy in 2 Turkish children. Neurol Genet 6, e392 (2020).
Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease. iScience 24, 101948 (2021).