Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.A430Splc
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ALB

NM_000477.7:p.A430Splc

Associated Papers

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

Caridi G et al.

International Journal of Molecular Sciences, 2022

Detection and molecular diagnosis of a new case of congenital analbuminaemia.

Cabrejas Núñez MJ et al.

Medicina Clinica, 2020

Congenital analbuminemia in a patient affected by hypercholesterolemia: A case report.

Suppressa P et al.

World Journal of Clinical Cases, 2019

A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.

Caridi G et al.

European Journal of Medical Genetics, 2019

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.

Minchiotti L et al.

Frontiers in Genetics, 2019

A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.

Caridi G et al.

Annals of Clinical Biochemistry, 2016

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

Caridi G et al.

Biochemia Medica, 2014

Congenital analbuminaemia: molecular defects and biochemical and clinical aspects.

Minchiotti L et al.

Biochimica Et Biophysica Acta, 2013

Detection of a novel splicing mutation causing analbuminemia in a Libyan family.

Bibi A et al.

Clinical Biochemistry, 2012

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Caridi G et al.

Molecular Genetics and Metabolism, 2012

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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."