Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.F433fs
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PLK4

NM_014264.5:p.F433fs

Associated Papers

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

Dinçer T et al.

European Journal of Human Genetics : Ejhg, 2017

A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.

Miyamoto T et al.

Andrology, 2016

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.

Martin CA et al.

Nature Genetics, 2014

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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."