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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.R2060_G2061Splc

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COL7A1

NM_000094.4:p.R2060_G2061Splc

hg38:chr3:48575334 C>A

Associated Papers

Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa.

Masunaga T et al.

Journal of Dermatological Science, 2015

26472200 (PubMed )

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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."