Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.D302H
Back to variants list

CHST3

NM_004273.5:p.D302H

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."