Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP2
Variant:p.D305N
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CEMIP2

NM_013390.3:p.D305N

Associated Papers

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Delcourt M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2015

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Liu Q et al.

Journal of Medical Genetics, 2012

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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."