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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT2

Variant:p.Q313_E314Splc

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EXT2

NM_207122.2:p.Q313_E314Splc

hg38:chr11:44126815 G>A

Associated Papers

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

Gnoli M et al.

Orphanet Journal of Rare Diseases, 2024

38351015 (PubMed )

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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."