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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT2

Variant:p.T219_W220insFs

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EXT2

NM_207122.2:p.T219_W220insFs

hg38:chr11:44114215 G>GAA

Associated Papers

PHF21A Related Disorder: Description of a New Case.

Butera A et al.

International Journal of Molecular Sciences, 2022

36555772 (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."