Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.V168insFs
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COL7A1

NM_000094.4:p.V168insFs

Associated Papers

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM et al.

Clinical Genetics, 2021

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.

Chiaverini C et al.

The British Journal of Dermatology, 2014

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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."