Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.H247Y
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COG1

NM_018714.3:p.H247Y

Associated Papers

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Li Z et al.

Bmc Musculoskeletal Disorders, 2020

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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."