Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.E2843*
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COL7A1

NM_000094.4:p.E2843*

Associated Papers

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.

Mecklenbeck S et al.

The Journal of Investigative Dermatology, 1999

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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."