Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.L90P
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ALB

NM_000477.7:p.L90P

Associated Papers

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

Caridi G et al.

International Journal of Molecular Sciences, 2022

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant.

Cho YY et al.

Annals of Laboratory Medicine, 2017

Clinical, Genetic, and Protein Structural Aspects of Familial Dysalbuminemic Hyperthyroxinemia and Hypertriiodothyroninemia.

Kragh-Hansen U et al.

Frontiers in Endocrinology, 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

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Lin D et al.

Human Mutation, 2001

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."