Varaico: Literature-Extracted Genetic Variants

Gene:XYLT1
Variant:p.R628H
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XYLT1

NM_022166.4:p.R628H

Associated Papers

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

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."