Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.L490fs
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EXT1

NM_000127.3:p.L490fs

Associated Papers

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series.

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.

Caino S et al.

Genes, 2022

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

Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.

Mohaidat Z et al.

Oncology Letters, 2021

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma.

Yuan G et al.

Biomed Research International, 2021

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.

Liang C et al.

Orthopaedic Surgery, 2020

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.

Fusco C et al.

Human Molecular Genetics, 2019

Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.

Li Y et al.

Medicine, 2018

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

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

Jamsheer A et al.

Journal of Applied Genetics, 2014

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M et al.

Gene, 2013

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

Sarrión P et al.

Scientific Reports, 2013

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Medek K et al.

Prague Medical Report, 0

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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."