Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.M267_L268Splc
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GLA

NM_000169.3:p.M267_L268Splc

Associated Papers

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Tsukimura T et al.

Molecular Genetics and Metabolism Reports, 2020

Fabry disease in a Japanese population-molecular and biochemical characteristics.

Sakuraba H et al.

Molecular Genetics and Metabolism Reports, 2018

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

Nakano S et al.

Plos One, 2015

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Nakano S et al.

Plos One, 2013

[Molecular genetics of Fabry disease].

Sakuraba H

Seikagaku. the Journal of Japanese Biochemical Society, 1989

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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."