Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.E280_Y281delFs
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PEPD

NM_000285.4:p.E280_Y281delFs

Associated Papers

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.

Carreño-Hidalgo M 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."