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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDCL3

Variant:p.Y48delFs

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PDCL3

NM_024065.5:p.Y48delFs

hg38:chr2:100568937 CAT>C

Associated Papers

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Billon C et al.

Clinical Genetics, 2020

32621347 (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."