Associated Papers
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
36309505 (PubMed )
Supplement: 41525_2022_335_MOESM1_ESM.pdf
Short telomere syndromes cause a primary T cell immunodeficiency.
Wagner CL et al.
The Journal of Clinical Investigation, 2018
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