Varaico: Literature-Extracted Genetic Variants

Gene:DPH5
Variant:p.N174fs
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DPH5

NM_015958.3:p.N174fs

Associated Papers

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Shankar SP et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

35482014 (PubMed )
Supplement: NIHMS1800445-supplement-mmc1.docx
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