Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.L29insFs
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ZDHHC2

NM_016353.5:p.L29insFs

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

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.

Alfonso P et al.

Journal of Human Genetics, 2007

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Lau EK et al.

Human Genetics, 1999

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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."