Varaico: Literature-Extracted Genetic Variants

Gene:NEK5
Variant:p.N459N
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NEK5

NM_001365552.1:p.N459N

Associated Papers

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

36976648 (PubMed )
Supplement: jci-133-165019-s016.xlsx › Table_S3

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
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