Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.L41P
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CHST14

NM_130468.4:p.L41P

Associated Papers

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

Paganini C et al.

The Febs Journal, 2019

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

Cortini F et al.

Archives of Dermatological Research, 2019

A case of Ehlers-Danlos syndrome.

NICOD M

Annales Paediatrici. International Review of Pediatrics, 1946

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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."