Varaico: Literature-Extracted Genetic Variants

Gene:CNEP1R1
Variant:p.R15R
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CNEP1R1

NM_001281789.2:p.R15R

Associated Papers

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.

Kikuchi T et al.

Journal of Human Genetics, 2007

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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."