Varaico: Literature-Extracted Genetic Variants

Gene:COL17A1
Variant:p.R1226P
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COL17A1

NM_000494.4:p.R1226P

Associated Papers

Revertant Mosaicism in Epidermolysis Bullosa.

Meyer-Mueller C et al.

Biomedicines, 2022

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

Pasmooij AM et al.

The Journal of Investigative Dermatology, 2012

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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."