Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.E2843Splc
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COL7A1

NM_000094.4:p.E2843Splc

Associated Papers

Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.

Rossi S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

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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."