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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGBD5

Variant:p.I481_H497delFs

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PGBD5

NM_001258311.2:p.I481_H497delFs

hg38:chr1:230323509 GTGGTAGGCGTCTGACATTTTGTACAGGATGTAGGCATTGTTGATGGCGA>G

Associated Papers

A transposase-derived gene required for human brain development.

Zapater LJ et al.

Science Advances, 2026

41533792 (PubMed )

A transposase-derived gene required for human brain development.

Zapater LJ et al.

Biorxiv : the Preprint Server for Biology, 2024

37163102 (PubMed )

Supplement: media-1.pdf

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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."