Varaico: Literature-Extracted Genetic Variants

Gene:COL7A1
Variant:p.V140del1
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COL7A1

NM_000094.4:p.V140del1

Associated Papers

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.

Verdoodt D et al.

Hearing Research, 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."