Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P2847insFs
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COL7A1

NM_000094.4:p.P2847insFs

Associated Papers

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

van den Akker PC et al.

Journal of Medical Genetics, 2011

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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."