Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.L284R
Back to variants list

C9orf72

NM_018325.5:p.L284R

Associated Papers

Analysis of C9orf72 repeat length in progressive supranuclear palsy, corticobasal syndrome, corticobasal degeneration, and atypical parkinsonism.

Vaughan DP et al.

Journal of Neurology, 2025

Systematic characterization of protein structural features of alternative splicing isoforms using AlphaFold 2.

Yang Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.

Aloisio S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.

Debnath M et al.

Annals of Neurosciences, 2022

Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Ruiz-Barrio I et al.

Frontiers in Neurology, 2022

Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Benussi A et al.

Jama Network Open, 2021

33404617 (PubMed )
Supplement: jamanetwopen-e2030194-s001.pdf

Genetics of Progressive Supranuclear Palsy: A Review.

Wen Y et al.

Journal of Parkinson's Disease, 2021

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."