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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.D2597G

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COL7A1

NM_000094.4:p.D2597G

hg38:chr3:48568503 T>C

Associated Papers

Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.

Kumar A et al.

Clinical and Experimental Dermatology, 2025

39141798 (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."