Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R222W
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CHST3

NM_004273.5:p.R222W

Associated Papers

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Otaify GA et al.

American Journal of Medical Genetics. Part A, 2023

Human genetic disorders and knockout mice deficient in glycosaminoglycan.

Mizumoto S et al.

Biomed Research International, 2014

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S et al.

American Journal of Medical Genetics. Part A, 2010

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Hermanns P et al.

American Journal of Human Genetics, 2008

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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."