Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.E2843Splc
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COL7A1

NM_000094.4:p.E2843Splc

Associated Papers

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

Warshauer EM et al.

American Journal of Medical Genetics. Part A, 2021

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

Rodríguez FA et al.

Journal of Dermatological Science, 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."