Varaico: Literature-Extracted Genetic Variants

Gene:ALDOB
Variant:p.A163V
Back to variants list

ALDOB

NM_000035.4:p.A163V

Associated Papers

Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.

Liao H et al.

Cancer Research, 2024

38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8

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

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."