Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.W2*
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COQ8B

NM_024876.4:p.W2*

Associated Papers

Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.

Zhang Y et al.

European Journal of Human Genetics : Ejhg, 2020

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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."