Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.E10_D11Splc
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PLK4

NM_014264.5:p.E10_D11Splc

Associated Papers

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Farcy S et al.

Cells, 2023

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.

Boonsawat P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30842647 (PubMed )
Supplement: 41436_2019_464_MOESM1_ESM.docx

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Dinçer T et al.

European Journal of Human Genetics : Ejhg, 2017

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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."