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Paper Details

Identification of a <i>de novo</i> mutation in <i>TLK1</i> associated with a neurodevelopmental disorder and immunodeficiency.
medRxiv
0
2023
ASD, ID, Intellectual Disability, Autosomal Dominant 57, M566T, MRD57, NDD, NDDs, RNA, TLK1, TLK1 transcripts, TLK1 variant, TLK1 variants, TLK2, TLK2 variants, Tousled-like kinases 1 and 2, autism spectrum disorder, chromatin, derived cells, global developmental delay, hypothyroidism, immunodeficiency, intellectual disability, microcephaly, neurodevelopmental disorder, p, p.Q479E, patient, patient-derived lymphoblast cell lines, primary immunodeficiency, seizures
Author NameAffiliation
Uma ShankavaramNational Cancer Institute, Center for Cancer Research
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
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