Varaico: Literature-Extracted Genetic Variants

Gene:DCN
Variant:p.D42delFs
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DCN

NM_001920.5:p.D42delFs

Associated Papers

Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.

Voermans NC et al.

American Journal of Medical Genetics. Part A, 2012

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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."