Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.G178insFs
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CHST3

NM_004273.5:p.G178insFs

Associated Papers

Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.

Zabihi R et al.

Clinical Genetics, 2026

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Khan FU et al.

Clinical Genetics, 2024

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

Singh S et al.

American Journal of Medical Genetics. Part A, 2024

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Srivastava P et al.

Frontiers in Genetics, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Srivastava P et al.

American Journal of Medical Genetics. Part A, 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

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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."