Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH.
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medRxiv [Preprint]. 2023 Aug 24:2023.08.22.23294267. doi: 10.1101/2023.08.22.23294267.
medRxiv. 2023.
PMID: 37662408
Free PMC article.
Preprint.