Varaico: Literature-Extracted Genetic Variants

Gene:CD109
Variant:p.R1172I
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CD109

NM_133493.5:p.R1172I

Associated Papers

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.

Karkheiran S et al.

Human Genetics, 2013

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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."