Varaico: Literature-Extracted Genetic Variants

Gene:NEK2
Variant:p.S3insFs
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NEK2

NM_002497.4:p.S3insFs

Associated Papers

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.

Reurink J et al.

Npj Genomic Medicine, 2022

35672333 (PubMed )
Supplement: 41525_2022_306_MOESM1_ESM.pdf
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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."