Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.F362S
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CHSY1

NM_014918.5:p.F362S

Associated Papers

Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.

Paganini C et al.

The Febs Journal, 2019

A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.

Izumikawa T et al.

Biochimica Et Biophysica Acta, 2013

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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."