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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.I135insFs

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COL18A1

NM_001379500.1:p.I135insFs

hg38:chr21:45468536 A>ACATGCCCCAGCTGG

Associated Papers

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

Gupta D et al.

Plos One, 2023

37556444 (PubMed )

Supplement: pone.0289558.s002.xlsx › Sheet1

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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."