Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.R120W
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ZDHHC2

NM_016353.5:p.R120W

Associated Papers

Neurological symptoms in adults with Gaucher disease: a systematic review.

Imbalzano G et al.

Journal of Neurology, 2024

38771384 (PubMed )
Supplement: 415_2024_12439_MOESM3_ESM.docx

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E et al.

Molecular Genetics and Metabolism Reports, 2020

Variants associated with Gaucher disease in multiple system atrophy.

Mitsui J et al.

Annals of Clinical and Translational Neurology, 2015

Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Deng H et al.

Molecular Neurobiology, 2015

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.

Li Y et al.

Neurobiology of Aging, 2014

Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.

Chen J et al.

Plos One, 2014

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.

Beavan MS et al.

Annals of Medicine, 2013

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan.

Huang CL et al.

European Journal of Neurology, 2011

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Velayati A et al.

Current Neurology and Neuroscience Reports, 2010

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Sidransky E et al.

The New England Journal of Medicine, 2009

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.

Wu YR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

[Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease].

Tang B et al.

Zhonghua Nei Ke Za Zhi, 2001

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Cormand B et al.

American Journal of Medical Genetics, 1998

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

Cormand B et al.

Human Mutation, 1998

Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

Wan L et al.

Blood Cells, Molecules & Diseases, 0

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.

Choy FY et al.

Blood Cells, Molecules & Diseases, 0

[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease].

Bukina TM et al.

Biomeditsinskaia Khimiia, 0

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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."