Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.Q566*
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COL7A1

NM_000094.4:p.Q566*

Associated Papers

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.

Fozia F et al.

Frontiers in Pediatrics, 2021

34414147 (PubMed )
Supplement: Table_1.docx

Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).

Nagel-Wolfrum K et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 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."