Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.L46Splc
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ALB

NM_000477.7:p.L46Splc

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

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

Ramos-Trujillo E et al.

Journal of Human Genetics, 2007

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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."