Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.C382*
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GLA

NM_000169.3:p.C382*

Associated Papers

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Simoncini C et al.

Journal of Neurology, 2020

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Duro G et al.

International Journal of Molecular Sciences, 2018

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M et al.

International Journal of Molecular Medicine, 2016

Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

Zizzo C et al.

Gene, 2016

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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."