Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2590delFs
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COL7A1

NM_000094.4:p.G2590delFs

Associated Papers

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.

Tu WT et al.

Orphanet Journal of Rare Diseases, 2022

36578049 (PubMed )
Supplement: 13023_2022_2605_MOESM3_ESM.docx

Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.

Chao SC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007

Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.

Lin GT et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2000

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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."