Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.L311P
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ALDOB

NM_000035.4:p.L311P

Associated Papers

Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Tang M et al.

Orphanet Journal of Rare Diseases, 2022

36028839 (PubMed )
Supplement: 13023_2022_2487_MOESM1_ESM.xlsx › TableS1

Epidemiological aspects of hereditary fructose intolerance: A database study.

Pinheiro FC et al.

Human Mutation, 2021

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Esposito G et al.

Human Mutation, 2010

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Davit-Spraul A et al.

Molecular Genetics and Metabolism, 2008

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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."