Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.A586delFs
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COL7A1

NM_000094.4:p.A586delFs

Associated Papers

Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.

Ota VK et al.

Clinical and Experimental Dermatology, 2025

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Mariath LM et al.

Clinical Genetics, 2021

Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.

Mariath LM et al.

Clinical Genetics, 2020

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Mariath LM et al.

Clinical Genetics, 2019

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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."