Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.L460P
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NT5C2

NM_001351169.2:p.L460P

Associated Papers

Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

Salari M et al.

Neurology. Genetics, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability.

Naseer MI et al.

Frontiers in Genetics, 2020

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Straussberg R et al.

American Journal of Medical Genetics. Part A, 2017

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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."