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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXO1

Variant:p.Q523R

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EXO1

NM_130398.4:p.Q523R

hg38:chr1:241878802 A>G

Associated Papers

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

Lee NH et al.

Korean Journal of Pediatrics, 2012

23227063 (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."