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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT2

Variant:p.E278*

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EXT2

NM_207122.2:p.E278*

hg38:chr11:44124877 G>T

Associated Papers

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Stancheva-Ivanova MK et al.

Journal of Inherited Metabolic Disease, 2011

21499719 (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."