Varaico: Literature-Extracted Genetic Variants

Gene:NOVA2
Variant:p.L276fs
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NOVA2

NM_002516.4:p.L276fs

Associated Papers

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Krygier M et al.

Frontiers in Genetics, 2023

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Scala M et al.

Human Mutation, 2022

[Genetic factors and a polygenic model of Alzheimer's disease].

Rogaev EI

Genetika, 1999

[Analysis of the association of inherited predisposition to breast cancer with c-Ha-ras-1 oncogene alleles].

Nefedov MD et al.

Genetika, 1990

[Genetic polymorphism of transferrins and postalbumins in cattle].

Fomicheva II

Genetika, 1973

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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."