Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.D56N
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XYLT2

NM_022167.4:p.D56N

Associated Papers

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.

Luo H et al.

The Journal of Investigative Dermatology, 2021

The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.

Ambrosius M et al.

Clinical Biochemistry, 2009

Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.

Hendig D et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.

Schön S et al.

Journal of Medical Genetics, 2006

Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.

Schön S et al.

Kidney International, 2005

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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."