Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.R691G
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PLA2G6

NM_001004426.3:p.R691G

Associated Papers

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Kurtovic-Kozaric A et al.

Orphanet Journal of Rare Diseases, 2024

39425167 (PubMed )
Supplement: 13023_2024_3275_MOESM1_ESM.xlsx › Sheet1

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Wan Y et al.

Frontiers in Neurology, 2022

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