Article

Identification of a<i>de novo</i>mutation in<i>TLK1</i>associated with a neurodevelopmental disorder and immunodeficiency

2023-08-24

Abstract excerpt

<h4>Background</h4> The Tousled-like kinases 1 and 2 (TLK1/TLK2) regulate DNA replication, repair and chromatin maintenance. TLK2 variants are associated with ‘Intellectual Disability, Autosomal Dominant 57’ (MRD57), a neurodevelopmental disorder (NDD) characterized by intellectual disability (ID), autism spectrum disorder (ASD) and microcephaly. Several TLK1 variants have been reported in NDDs but their functiona...

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Literature Corpus work: c0b45714-c663-54a2-8632-717eeb1b3a75
DOI: 10.1101/2023.08.22.23294267

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