Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.T10insFs
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PLA2G6

NM_003560.4:p.T10insFs

Associated Papers

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

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.

Zou Y et al.

Frontiers in Neurology, 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

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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."