Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.E217K
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CHST14

NM_130468.4:p.E217K

Associated Papers

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.

Miyake N et al.

Advances in Experimental Medicine and Biology, 2021

Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.

Cortini F et al.

Archives of Dermatological Research, 2019

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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."