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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEPD

Variant:p.R437delFs

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PEPD

NM_000285.4:p.R437delFs

hg38:chr19:33387923 GC>G

Associated Papers

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

Basu S et al.

Pediatric Dermatology, 0

37574707 (PubMed )

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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."