Associated Papers
DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
Ütkür K et al.
Disease Models & Mechanisms, 2023
37675463 (PubMed )
Supplement: dmm-16-050207-s1.pdf
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R et al.
European Journal of Human Genetics : Ejhg, 2020
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