Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.W327C
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CHST14

NM_130468.4:p.W327C

Associated Papers

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR et al.

American Journal of Medical Genetics. Part A, 2016

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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."