Varaico: Literature-Extracted Genetic Variants

Gene:COG8
Variant:p.L345delFs
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COG8

NM_032382.5:p.L345delFs

Associated Papers

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA et al.

Molecular Genetics and Metabolism, 0

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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."