Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.L192P
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PEPD

NM_000285.4:p.L192P

Associated Papers

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.

Linhares ND et al.

Genetics and Molecular Biology, 2021

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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."