Varaico: Literature-Extracted Genetic Variants

Gene:RAB39B
Variant:p.E179insFs
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RAB39B

NM_171998.4:p.E179insFs

Associated Papers

Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism.

Mackels L et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024

Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism.

Abusrair A et al.

Parkinsonism & Related Disorders, 2023

The Role of Rab Proteins in Parkinson's Disease Synaptopathy.

Bellucci A et al.

Biomedicines, 2022

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Mignogna ML et al.

Human Molecular Genetics, 2022

Dysfunction of RAB39B-Mediated Vesicular Trafficking in Lewy Body Diseases.

Koss DJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Generation of induced pluripotent stem cell line (ZZUi027-A) derived from skin fibroblasts from a Parkinson's disease patient with RAB39B gene mutation.

Sun H et al.

Stem Cell Research, 2021

RAB39B's role in membrane traffic, autophagy, and associated neuropathology.

Tang BL

Journal of Cellular Physiology, 2021

Generation of induced pluripotent stem cell line (ZZUi005-A) from a 21-year-old patient with a novel RAB39B gene mutation in X-linked juvenile parkinsonism.

Wang Y et al.

Stem Cell Research, 2017

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Puschmann A

Current Neurology and Neuroscience Reports, 2017

A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.

Shi CH et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."