Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.R134S
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ALDOB

NM_000035.4:p.R134S

Associated Papers

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

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

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Santer R et al.

Human Mutation, 2005

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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."