Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.I415N
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PEPD

NM_000285.4:p.I415N

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 diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

Rayment JH et al.

Erj Open Research, 2019

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