Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.L316fs
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EXT2

NM_000401.3:p.L316fs

Associated Papers

Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.

Yang M et al.

Journal of Clinical Laboratory Analysis, 2021

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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."