Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.L106F
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GLA

NM_000169.3:p.L106F

Associated Papers

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

Determinants of cerebral radiological progression in Fabry disease.

Körver S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2020

Cardiac Phenotype of Prehypertrophic Fabry Disease.

Nordin S et al.

Circulation. Cardiovascular Imaging, 2018

29853467 (PubMed )
Supplement: hci-11-e007168-s001.pdf

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.

van der Tol L et al.

Jimd Reports, 2016

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

Smid BE et al.

Journal of Medical Genetics, 2015

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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."