Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.V168fs
Back to variants list

COL7A1

NM_000094.4:p.V168fs

Associated Papers

Dominant dystrophic epidermolysis bullosa across three distinct skin types.

Kaznoski I et al.

Journal of the American Academy of Dermatology, 2025

Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.

Suru A et al.

Cureus, 2024

Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.

Savostyanov K et al.

International Journal of Molecular Sciences, 2022

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.

Aref-Eshghi E et al.

Journal of Human Genetics, 2021

Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.

Aguado T et al.

Cells, 2020

32947957 (PubMed )
Supplement: cells-09-02108-s001.zip › cells-911863_supplementary › Supp_Table_1.xls › Hoja2

Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.

Chacón-Solano E et al.

The British Journal of Dermatology, 2019

30693469 (PubMed )
Supplement: BJD-181-512-s003.xlsx › b__Validation_samples

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

Kopečková L et al.

The British Journal of Dermatology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."