Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R39*
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NT5C2

NM_001351169.2:p.R39*

Associated Papers

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

Berry JG et al.

Ebiomedicine, 2025

41202470 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG45

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM4_ESM.xlsx › Supplementary_Table_7

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 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."