Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q333fs
Back to variants list

GLA

NM_000169.3:p.Q333fs

Associated Papers

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Savostyanov K et al.

Genes, 2023

Recurrent acute coronary syndrome, polymorphic premature ventricular complexes and a son with a (mis)diagnosis of multiple sclerosis.

Nestele J et al.

Acta Cardiologica, 2020

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Varela P et al.

Orphanet Journal of Rare Diseases, 2020

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."