Associated Papers
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M et al.
Iscience, 2024
Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Reijnders MRF et al.
American Journal of Human Genetics, 2018
29861108 (PubMed )
Supplement: mmc2.pdf
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