Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.M358_S359delFs
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PLA2G6

NM_003560.4:p.M358_S359delFs

Associated Papers

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

Chu YT et al.

Bmc Neurology, 2020

Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.

Wang ZB et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019

Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.

Chiu CC et al.

Stem Cell Research, 2019

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Guo S et al.

Molecular Neurobiology, 2017

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.

Lu CS et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012

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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."