Varaico: Literature-Extracted Genetic Variants

Gene:PODXL
Variant:p.P30insFs
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PODXL

NM_001018111.3:p.P30insFs

Associated Papers

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.

Pillay NS et al.

Frontiers in Genetics, 2022

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.

Guadagnolo D et al.

Frontiers in Neurology, 2021

Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population.

Chen SJ et al.

Neurobiology of Aging, 2019

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism.

Sudhaman S et al.

Journal of Medical Genetics, 2016

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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."