Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.R242P
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ALB

NM_000477.7:p.R242P

Associated Papers

Mycobacterium bovis PknG R242P Mutation Results in Structural Changes with Enhanced Virulence in the Mouse Model of Infection.

Oliveira FM et al.

Microorganisms, 2022

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

Caridi G et al.

International Journal of Molecular Sciences, 2022

Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia.

Abali S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

Zakerska-Banaszak O et al.

Scientific Reports, 2017

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.

Cho YY et al.

Annals of Laboratory Medicine, 2017

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

Case report: familial dysalbuminemic hyperthyroxinemia--a variant.

Goldman MH et al.

The Journal of the Medical Society of New Jersey, 1984

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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."