Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.F292delFs
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PEPD

NM_000285.4:p.F292delFs

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

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.

Hintze JP et al.

Molecular Syndromology, 2016

Lack of prolidase causes a bone phenotype both in human and in mouse.

Besio R et al.

Bone, 2015

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

Basu S et al.

Pediatric Dermatology, 0

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