Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.T119delFs
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COL7A1

NM_000094.4:p.T119delFs

Associated Papers

Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.

March OP et al.

Cells, 2020

Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa.

Sebastiano V et al.

Science Translational Medicine, 2014

De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.

Woodley DT et al.

The Journal of Investigative 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."