Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.W148R
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ALDOB

NM_000035.4:p.W148R

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

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

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

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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."