Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.F275delFs
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PEPD

NM_000285.4:p.F275delFs

Associated Papers

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Gungoren EY et al.

Turkish Archives of Pediatrics, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

Prolidase Deficiency in Very Early Onset Inflammatory Bowel Disease (VEO-IBD).

Madhusudan M et al.

Indian Journal of Pediatrics, 2021

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

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

Basu S et al.

Pediatric Dermatology, 0

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