Varaico: Literature-Extracted Genetic Variants

Gene:ZDHHC2
Variant:p.S167insFs
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ZDHHC2

NM_016353.5:p.S167insFs

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

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

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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."