Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.A639T
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PLA2G6

NM_003560.4:p.A639T

Associated Papers

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.

Cai D et al.

Frontiers in Neurology, 2024

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

Dehnavi AZ et al.

Orphanet Journal of Rare Diseases, 2023

Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.

Cheng HL et al.

Brain Sciences, 2022

35624904 (PubMed )
Supplement: brainsci-12-00517-s001.zip › brainsci-1650042-supplementary › Supplementary_files__revised_2_ › Table_S1-4__revised_2_.xlsx › Table_S1

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Magrinelli F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study.

Chen C et al.

Frontiers in Neuroscience, 2022

Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature.

Gao L et al.

Frontiers in Neuroscience, 2022

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

Chu YT et al.

Bmc Neurology, 2020

Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.

Chen YJ et al.

Parkinsonism & Related Disorders, 2018

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