Title : Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

Pub. Date : 2020 Mar

PMID : 31558842






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Carbon tousled like kinase 2 Homo sapiens