Varaico: Literature-Extracted Genetic Variants

Gene:PLK4
Variant:p.L254insFs
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PLK4

NM_014264.5:p.L254insFs

Associated Papers

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

Boonsawat P et al.

Npj Genomic Medicine, 2022

35906228 (PubMed )
Supplement: 41525_2022_316_MOESM2_ESM.pdf

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

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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."