Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.T141M
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CHST3

NM_004273.5:p.T141M

Associated Papers

Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.

Singh S et al.

American Journal of Medical Genetics. Part A, 2024

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

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

Liang H et al.

Endocrine, 2023

[Hereditary Skeletal and Skin Disorders Caused by Defects in the Biosynthesis of Chondroitin/Dermatan Sulfate, and Molecular Mechanisms of Pulmonary Metastasis].

Mizumoto S

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2019

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.

Muys J et al.

Clinical Case Reports, 2017

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

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Tuysuz B et al.

Clinical Genetics, 2009

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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."