Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.S801C
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XYLT1

NM_022166.4:p.S801C

Associated Papers

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

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

The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.

Schön S et al.

Diabetes Care, 2006

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

Mutational and functional analyses of xylosyltransferases and their implication in osteoarthritis.

Schön S et al.

Osteoarthritis and Cartilage, 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."