Varaico: Literature-Extracted Genetic Variants

Gene:CSGALNACT1
Variant:p.S126L
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CSGALNACT1

NM_001354483.2:p.S126L

Associated Papers

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Vodopiutz J et al.

Human Mutation, 2017

Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis.

Saigoh K et al.

Neuroscience Research, 2016

Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.

Ma X et al.

Nature Communications, 2015

25790293 (PubMed )
Supplement: ncomms7604-s3.xls › Sheet1
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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."