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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PADI6

Variant:p.L377fs

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PADI6

NM_207421.4:p.L377fs

hg38:chr1:17394029 CTC>N

Associated Papers

A novel PADI6 splice-site variant induces non-canonical GC-AG splicing and embryonic arrest in humans.

Hu H et al.

Functional & Integrative Genomics, 2025

40830544 (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."