Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.A179fs
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CHST3

NM_004273.5:p.A179fs

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

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

Liang H et al.

Endocrine, 2023

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

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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."