Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L424del1
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PANK2

NM_001386393.1:p.L424del1

Associated Papers

Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Li WB et al.

Frontiers in Aging Neuroscience, 2022

35462688 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.

Lee JH et al.

Journal of Movement Disorders, 2016

26828213 (PubMed )
Supplement: jmd-15058-supple.pdf
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