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Paper Details

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
9
2022
39kb deletion, Asp551Gly, BRD4, CHD7, CHD8, MRD57, Mental Retardation Autosomal Dominant 57, NACC1, Ser617Leu, TLK1, TLK2, TLK2 kinase, TLK2 variants, Tousled-like kinases 1 and 2, behavioural abnormalities, c.1423G, c.1423G>T; p, c.1652A, c.1652A>G; p, c.1850C, c.1850C>T; p, chromatin, control cells, epilepsy, exome, facial dysmorphisms, intellectual disability, lymphoblastoid cells, microcephaly, neurodevelopmental disorder, neurodevelopmental disorders, neurological disorders, p.(Asp551Gly), patients, skeletal anomalies
Author NameAffiliation
Marta VilasecaThe Barcelona Institute of Science and Technology, Institute for Research in Biomedicine
Francesca Clementina RadioOspedale Pediatrico Bambino Gesu IRCCS
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Silvia De RubeisFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Silvia De RubeisThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Silvia De RubeisIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumThe Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumFriedman Brain Institute, Icahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Joseph D BuxbaumIcahn School of Medicine at Mount Sinai
Giovanni Battista FerreroUniversity of Turin
Marco TartagliaOspedale Pediatrico Bambino Gesu IRCCS
Simone MartinelliIstituto Superiore di Sanita
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