Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G546Splc
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COL7A1

NM_000094.4:p.G546Splc

Associated Papers

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.

Gurevich I et al.

Nature Medicine, 2022

Kindler syndrome: a focal adhesion genodermatosis.

Lai-Cheong JE et al.

The British Journal of Dermatology, 2009

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Has C et al.

The Journal of Investigative Dermatology, 2006

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

Pfendner EG et al.

Prenatal Diagnosis, 2003

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

Whittock NV et al.

The Journal of Investigative Dermatology, 1999

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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."