Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.G2596fs
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COL7A1

NM_000094.4:p.G2596fs

Associated Papers

Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.

Khan AO et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

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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."