Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R346T
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EXT1

NM_000127.3:p.R346T

Associated Papers

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models.

Guo X et al.

Bone & Joint Research, 2025

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Santos SCL et al.

Molecular Genetics & Genomic Medicine, 2018

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Delgado MA et al.

Scientific Reports, 2014

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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."