Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.E268*
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ALB

NM_000477.7:p.E268*

Associated Papers

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

Caridi G et al.

International Journal of Molecular Sciences, 2022

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.

Minchiotti L et al.

Frontiers in Genetics, 2019

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.

Minchiotti L et al.

Biochimica Et Biophysica Acta, 2013

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.

Caridi G et al.

European Journal of Clinical Investigation, 2013

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Caridi G et al.

Molecular Genetics and Metabolism, 2012

Molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene.

Dagnino M et al.

International Journal of Molecular Sciences, 2011

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

Minchiotti L et al.

Human Mutation, 2008

Involvement of glutamate 268 in the active site of human liver mitochondrial (class 2) aldehyde dehydrogenase as probed by site-directed mutagenesis.

Wang X et al.

Biochemistry, 1995

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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."