Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.R304W
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ALDOB

NM_000035.4:p.R304W

Associated Papers

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

Tabassum I et al.

International Journal of Molecular Sciences, 2025

41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A

Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population.

Liu X et al.

Ginekologia Polska, 2024

Estimation of hereditary fructose intolerance prevalence in the Chinese population.

Tang M et al.

Orphanet Journal of Rare Diseases, 2022

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

Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Zhang M et al.

Aging, 2020

32629428 (PubMed )
Supplement: aging-12-103500-s006..xlsx › Sheet1

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."