Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.T10fs
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PLA2G6

NM_003560.4:p.T10fs

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

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

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
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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."