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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEMIP2

Variant:p.W123insFs

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CEMIP2

NM_013390.3:p.W123insFs

hg38:chr9:71746302 T>TC

Associated Papers

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

Li J et al.

Journal of Medical Genetics, 2012

22131361 (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."