Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.L178L
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CDK5R1

NM_003885.3:p.L178L

Associated Papers

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Moncini S et al.

Journal of Human Genetics, 2016

Effects of p35 Mutations Associated with Mental Retardation on the Cellular Function of p35-CDK5.

Takada S et al.

Plos One, 2015

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Venturin M et al.

Neurogenetics, 2006

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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."