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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL7A1

Variant:p.V130delFs

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COL7A1

NM_000094.4:p.V130delFs

hg38:chr3:48593573 GA>G

Associated Papers

Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.

Gupta D et al.

Plos One, 2023

37556444 (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."