Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R2
Variant:p.C243Y
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CDK5R2

NM_003936.5:p.C243Y

Associated Papers

High-Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations.

Zhu J et al.

Prenatal Diagnosis, 2024

Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.

Murad H et al.

Gene, 2013

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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."