The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
Published 2015 View Full Article
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Title
The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
Authors
Keywords
Autism Spectrum Disorder, Mild Intellectual Disability, Neuritic Process, Exome Aggregation Consortium, GATK HaplotypeCaller
Journal
Molecular Neurodegeneration
Volume 10, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-09-24
DOI
10.1186/s13024-015-0045-4
References
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- Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
- (2013) Lieselot Vanmarsenille et al. HUMAN MUTATION
- Advances in the genetics of Parkinson disease
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- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
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- (2012) D. Tsuang et al. NEUROLOGY
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- A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
- (2011) Alexander Zimprich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Norepinephrine Deficiency Is Caused by Combined Abnormal mRNA Processing and Defective Protein Trafficking of Dopamine β-Hydroxylase
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- Role of Rab GTPases in Membrane Traffic and Cell Physiology
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- Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
- (2010) Maila Giannandrea et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Protein structure prediction on the Web: a case study using the Phyre server
- (2009) Lawrence A Kelley et al. Nature Protocols
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