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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEPD

Variant:p.A294fs

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PEPD

NM_000285.4:p.A294fs

hg38:chr19:33401808 GGC>N

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

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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."