Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.W277*
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GLA

NM_000169.3:p.W277*

Associated Papers

Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.

Ivanova MM et al.

Cells, 2025

40072051 (PubMed )
Supplement: cells-14-00322-s001.zip › cells-3451175-supplementary.pdf

Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.

Mursă A et al.

Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024

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

Savostyanov K et al.

Genes, 2023

Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.

Ivanova MM et al.

Cells, 2023

Conjunctival lymphangiectasia associated with classic Fabry disease.

Sivley MD et al.

The British Journal of Ophthalmology, 2018

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

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Nakano S et al.

Plos One, 2015

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Branton MH et al.

Medicine, 2002

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM et al.

Clinical Genetics, 2001

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

Ashton-Prolla P et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Topaloglu AK et al.

Molecular Medicine (cambridge, Mass.), 1999

Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Militaru S et al.

Current Health Sciences Journal, 0

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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."