Varaico: Literature-Extracted Genetic Variants

Gene:EXT1
Variant:p.S149fs
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EXT1

NM_000127.3:p.S149fs

Associated Papers

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.

Kim SJ et al.

Frontiers in Genetics, 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."