Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.P2027fs
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COL7A1

NM_000094.4:p.P2027fs

Associated Papers

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.

Liu JJ et al.

Cancer Medicine, 2020

33017516 (PubMed )
Supplement: CAM4-9-8243-s003.xlsx › WES_filtered_by_FIREVAT

Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.

Chen F et al.

Clinical Genetics, 2020

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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."