Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2028fs
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COL7A1

NM_000094.4:p.G2028fs

Associated Papers

Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.

Buianova AA et al.

International Journal of Molecular Sciences, 2025

Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Arline Diana I et al.

The Australasian Journal of Dermatology, 2023

Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.

Chong SC et al.

The Journal of Dermatological Treatment, 2021

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

Kopečková L et al.

The British Journal of Dermatology, 2016

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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."