Associated Papers
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.
Woods E et al.
American Journal of Medical Genetics. Part A, 2022
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L et al.
Journal of Medical Genetics, 2022
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Töpf A et al.
European Journal of Human Genetics : Ejhg, 2020
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