Varaico: Literature-Extracted Genetic Variants

Gene:NEK2
Variant:p.G134D
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NEK2

NM_002497.4:p.G134D

Associated Papers

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes

Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Sosonkina N et al.

Genes & Genomics, 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."