Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2587delFs
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COL7A1

NM_000094.4:p.G2587delFs

Associated Papers

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

Natale MI et al.

American Journal of Medical Genetics. Part A, 2022

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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."