Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C174delFs
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GLA

NM_000169.3:p.C174delFs

Associated Papers

Fabry Disease with Aseptic Meningitis: A Case Series and Literature Review of an Underestimated Clinical Presentation.

Tang MY et al.

Current Medical Science, 2022

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L et al.

Plos One, 2018

29621274 (PubMed )
Supplement: pone.0193550.s004.pdf

Aseptic meningitis and ischaemic stroke in Fabry disease.

Lidove O et al.

International Journal of Clinical Practice, 2009

Fabry disease: 20 novel GLA mutations in 35 families.

Blaydon D et al.

Human Mutation, 2001

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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."