Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.C273Splc
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PEPD

NM_000285.4:p.C273Splc

Associated Papers

Clinical Genetics of Prolidase Deficiency: An Updated Review.

Spodenkiewicz M et al.

Biology, 2020

32455636 (PubMed )
Supplement: biology-09-00108-s001.zip › biology-798548-supplementary.xlsx › Supplementary_data_2

Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.

Lupi A et al.

Amino Acids, 2008

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Hershkovitz T et al.

Clinical and Experimental Dermatology, 2006

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

Forlino A et al.

Human Genetics, 2002

Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.

Basu S et al.

Pediatric Dermatology, 0

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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."