Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.V289I
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ALG9

NM_024740.2:p.V289I

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

de la Morena-Barrio ME et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.

Baysal BE et al.

Behavioral and Brain Functions : Bbf, 2006

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

Frank CG et al.

American Journal of Human Genetics, 2004

A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.

Baysal BE et al.

Neurogenetics, 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."