Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.E278fs
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EXT2

NM_207122.2:p.E278fs

Associated Papers

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

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Wang Y et al.

Frontiers in Genetics, 2020

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas.

Veraldi N et al.

Molecules (basel, Switzerland), 2018

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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."