Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.L38L
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DPH5

NM_015958.3:p.L38L

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
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