Varaico: Literature-Extracted Genetic Variants

Gene:CHST14
Variant:p.G228fs
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CHST14

NM_130468.4:p.G228fs

Associated Papers

Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome.

Kosho T et al.

Genes, 2019

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.

Mizumoto S et al.

Pharmaceuticals (basel, Switzerland), 2017

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

Kosho T

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

Winters KA 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."