Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.L158P
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ALG6

NM_013339.4:p.L158P

Associated Papers

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

Kranz C et al.

American Journal of Medical Genetics. Part A, 2007

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Thiel C et al.

The Biochemical Journal, 2002

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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."