Varaico: Literature-Extracted Genetic Variants

Gene:PIGU
Variant:p.N383K
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PIGU

NM_080476.5:p.N383K

Associated Papers

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.

Li D

Sub-cellular Biochemistry, 2024

Structure of human glycosylphosphatidylinositol transamidase.

Zhang H et al.

Nature Structural & Molecular Biology, 2022

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

Knaus A et al.

American Journal of Human Genetics, 2019

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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."