Varaico: Literature-Extracted Genetic Variants

Gene:COG5
Variant:p.S155_K156delins
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COG5

NM_006348.5:p.S155_K156delins

Associated Papers

Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.

Xue H et al.

Scientific Reports, 2024

Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.

Wang YC et al.

Molecular Genetics and Metabolism Reports, 2024

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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."