Varaico: Literature-Extracted Genetic Variants

Gene:GALNT2
Variant:p.Q289*
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GALNT2

NM_004481.5:p.Q289*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.

Kato K et al.

Molecules (basel, Switzerland), 2021

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Zilmer M et al.

Brain : a Journal of Neurology, 2020

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.

Khetarpal SA et al.

Cell Metabolism, 2016

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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."