Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.T613M
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EXT1

NM_000127.3:p.T613M

Associated Papers

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

Yepes S et al.

Cancers, 2021

Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing.

Shen Y et al.

Translational Pediatrics, 2020

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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."