Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R889fs
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COG1

NM_018714.3:p.R889fs

Associated Papers

COG1-congenital disorders of glycosylation: Milder presentation and review.

Salazar M et al.

Clinical Genetics, 2021

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 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."