Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.R341G
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EXT1

NM_000127.3:p.R341G

Associated Papers

Gene Variants Characterize and Distinguish Osteochondromas in Patients With Hereditary Multiple Osteochondromas.

Mundy C et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2026

Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.

Güneş N et al.

Turkish Archives of Pediatrics, 2023

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.

Al-Zayed Z et al.

Orphanet Journal of Rare Diseases, 2021

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P et al.

Scientific Reports, 2013

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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."