Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.R39L
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PLA2G6

NM_003560.4:p.R39L

Associated Papers

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

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Kapoor S et al.

Plos One, 2016

27196560 (PubMed )
Supplement: pone.0155605.s001.pdf

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Yamamoto T et al.

Human Genome Variation, 2015

27081553 (PubMed )
Supplement: hgv201548-s2.xls › Table_S2

Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

Wu Y et al.

European Journal of Neurology, 2009

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