Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.C779Y
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PLK4

NM_014264.5:p.C779Y

Associated Papers

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Neitzel H et al.

Human Genetics, 2022

Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.

Martín-Rivada Á et al.

Hormone Research in Paediatrics, 2020

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy.

Tsutsumi M et al.

European Journal of Human Genetics : Ejhg, 2016

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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."