Varaico: Literature-Extracted Genetic Variants

Gene:XYLT2
Variant:p.P115L
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XYLT2

NM_022167.4:p.P115L

Associated Papers

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

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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."