Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.V194delFs
Back to variants list

PEPD

NM_000285.4:p.V194delFs

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

A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene.

Kiratli Nalbant E et al.

Jaad Case Reports, 2019

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

Basu S et al.

Pediatric Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."