Varaico: Literature-Extracted Genetic Variants

Gene:GALNT2
Variant:p.Q216H
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GALNT2

NM_004481.5:p.Q216H

Associated Papers

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits

A glycogene mutation map for discovery of diseases of glycosylation.

Hansen L et al.

Glycobiology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A9-01A.domain

Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

Tietjen I et al.

Plos One, 2012

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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."