Varaico: Literature-Extracted Genetic Variants

Gene:DOHH
Variant:p.E219fs
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DOHH

NM_001145165.2:p.E219fs

Associated Papers

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

VanSickle EA et al.

American Journal of Medical Genetics. Part A, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."