Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.H167Q
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CHST3

NM_004273.5:p.H167Q

Associated Papers

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

Liang H et al.

Endocrine, 2023

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

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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."