Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.H129delFs
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COL7A1

NM_000094.4:p.H129delFs

Associated Papers

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

Fozia F et al.

Diagnostics (basel, Switzerland), 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."