Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R221C
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CHST3

NM_004273.5:p.R221C

Associated Papers

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

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

Singh S et al.

American Journal of Medical Genetics. Part A, 2024

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

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

Liang H et al.

Endocrine, 2023

Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.

Kausar M et al.

Bmc Musculoskeletal Disorders, 2022

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."