Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.E79E
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EXT2

NM_207122.2:p.E79E

Associated Papers

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

Sabir AH et al.

Bmc Medical Genomics, 2021

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Heddar A et al.

Genes, Chromosomes & Cancer, 2017

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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."