Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.V27_A28insA
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PLA2G6

NM_003560.4:p.V27_A28insA

Associated Papers

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

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

Guo YP et al.

Frontiers in Neurology, 2018

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

Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

Zhang P et al.

European Journal of Neurology, 2013

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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."