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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.P2167_G2168Splc

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COL7A1

NM_000094.4:p.P2167_G2168Splc

hg38:chr3:48573892 T>C

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )

Supplement: mmc2.xlsx › variantCounts

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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."