Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P2176delFs
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COL7A1

NM_000094.4:p.P2176delFs

Associated Papers

Dystrophic Epidermolysis Bullosa (DEB): How Can Pregnancy Alter the Course of This Rare Disease? An Updated Literature Review on Obstetrical Management with an Additional Italian Experience.

Vimercati A et al.

Diseases (basel, Switzerland), 2024

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.

Pasmooij AM et al.

Discovery Medicine, 2012

Revertant mosaicism in skin: natural gene therapy.

Lai-Cheong JE et al.

Trends in Molecular Medicine, 2011

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.

Pasmooij AM et al.

The Journal of Investigative Dermatology, 2010

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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."