Varaico: Literature-Extracted Genetic Variants

Gene:PRSS53
Variant:p.P411insFs
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PRSS53

NM_001039503.3:p.P411insFs

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."