Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.I946F
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ATP13A2

NM_022089.4:p.I946F

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG78

GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.

Rački V et al.

Genes, 2024

38397244 (PubMed )
Supplement: genes-15-00255-s001.zip › genes-2872356-supplementary.pdf

A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.

Salemi M et al.

Biomedicines, 2023

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.

Alvarez Jerez P et al.

Npj Parkinson's Disease, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Vacchiano V et al.

Genes, 2022

Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes.

Ratti A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Kolarova H et al.

Ebiomedicine, 2022

35180557 (PubMed )
Supplement: mmc3.xlsx › List1

ATP13A2 variability in Parkinson disease.

Vilariño-Güell C et al.

Human Mutation, 2009

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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."