Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.P806R
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PLA2G6

NM_003560.4:p.P806R

Associated Papers

Animal Models of Autosomal Recessive Parkinsonism.

Bastioli G et al.

Biomedicines, 2021

Lack of Association Between PLA2G6 Genetic Variation and Parkinson's Disease: A Systematic Review.

Liu H et al.

Neuropsychiatric Disease and Treatment, 2020

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

Guo YP et al.

Frontiers in Neurology, 2018

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

Yamashita C et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

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

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.

Gui YX et al.

Parkinsonism & Related Disorders, 2013

Parkinson's disease: from genetics to treatments.

Fan HC et al.

Cell Transplantation, 2013

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

The PLA2G6 gene in early-onset Parkinson's disease.

Kauther KM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

PLA2G6 variant in Parkinson's disease.

Tomiyama H et al.

Journal of Human Genetics, 2011

Myostatin depletion: a therapy for Ehlers-Danlos syndrome?

Prontera P et al.

Annals of Neurology, 2010

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