Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.E830D
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PLK4

NM_014264.5:p.E830D

Associated Papers

Comparative analysis of histopathological parameters, genome-wide copy number alterations, and variants in genes involved in cell cycle regulation in chordomas of the skull base and sacrum.

Salle H et al.

Journal of Neuropathology and Experimental Neurology, 2023

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Maternal common variant rs2305957 spanning PLK4 is associated with blastocyst formation and early recurrent miscarriage.

Zhang Q et al.

Fertility and Sterility, 2017

Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Lips EH et al.

Breast Cancer Research : Bcr, 2015

26433948 (PubMed )
Supplement: 13058_2015_642_MOESM4_ESM.xlsx › somatic_variants_proposal2.txt

Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos.

McCoy RC et al.

Science (new York, N.y.), 2015

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