Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.F213I
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ZDHHC2

NM_016353.5:p.F213I

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

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Smith L et al.

Molecular Genetics and Metabolism, 2016

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Variants associated with Gaucher disease in multiple system atrophy.

Mitsui J et al.

Annals of Clinical and Translational Neurology, 2015

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Goker-Alpan O et al.

The Journal of Pediatrics, 2003

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M et al.

Human Mutation, 2002

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."