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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.E2857G

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COL7A1

NM_000094.4:p.E2857G

hg38:chr3:48565159 T>C

Associated Papers

A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

Lucky AW et al.

Pediatric Dermatology, 2018

29334134 (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."