Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E143K
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ALB

NM_000477.7:p.E143K

Associated Papers

Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.

Jurickova K et al.

Journal of Personalized Medicine, 2022

Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.

Caridi G et al.

International Journal of Molecular Sciences, 2022

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Reková P et al.

Journal of Clinical Medicine, 2021

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

Hodgson J et al.

American Journal of Respiratory and Critical Care Medicine, 2020

Human serum albumin isoforms: genetic and molecular aspects and functional consequences.

Kragh-Hansen U et al.

Biochimica Et Biophysica Acta, 2013

Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.

Minchiotti L et al.

Human Mutation, 2008

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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."