Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Y134*
Back to variants list

GLA

NM_000169.3:p.Y134*

Associated Papers

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism.

Zedde M et al.

Cells, 2024

Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

Zedde M et al.

Biomedicines, 2022

Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Gago MF et al.

Journal of Parkinson's Disease, 2020

Parkinson's disease prevalence in Fabry disease: A survey study.

Wise AH et al.

Molecular Genetics and Metabolism Reports, 2018

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

Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.

Glass RB et al.

Journal of Computer Assisted Tomography, 0

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."